diff --git a/data/STRchive-loci.json b/data/STRchive-loci.json index bf0c5861..772e644b 100644 --- a/data/STRchive-loci.json +++ b/data/STRchive-loci.json @@ -758,11 +758,11 @@ "disease_id": "SCA8", "gene": "ATXN8OS", "chrom": "chr13", - "start_hg38": 70139383, + "start_hg38": 70139353, "stop_hg38": 70139429, - "start_hg19": 70713515, + "start_hg19": 70713485, "stop_hg19": 70713561, - "start_t2t": 69361243, + "start_t2t": 69361215, "stop_t2t": 69361270, "disease": "Spinocerebellar ataxia type 8", "inheritance": ["AD"], @@ -781,11 +781,11 @@ "year": "1999 [@pmid:10192387]", "location_in_gene": "Coding Exon 1, or 3' UTR depending on transcript", "gene_strand": "+", - "reference_motif_reference_orientation": ["CTG"], - "pathogenic_motif_reference_orientation": ["CTG"], + "reference_motif_reference_orientation": ["CTG", "CTA"], + "pathogenic_motif_reference_orientation": ["CTG", "CTA"], "benign_motif_reference_orientation": [], "unknown_motif_reference_orientation": [], - "pathogenic_motif_gene_orientation": ["CTG"], + "pathogenic_motif_gene_orientation": ["CTG", "ACT"], "benign_motif_gene_orientation": [], "unknown_motif_gene_orientation": [], "locus_structure": [ diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.TRGT.bed b/data/catalogs/STRchive-disease-loci.T2T-chm13.TRGT.bed index 192ac6d9..0d28165c 100644 --- a/data/catalogs/STRchive-disease-loci.T2T-chm13.TRGT.bed +++ b/data/catalogs/STRchive-disease-loci.T2T-chm13.TRGT.bed @@ -36,7 +36,7 @@ chr12 6947903 6947941 ID=DRPLA_ATN1;MOTIFS=CAG;STRUC= chr12 50468095 50468118 ID=FRA12A_DIP2B;MOTIFS=GGC;STRUC= chr12 111575873 111575940 ID=SCA2_ATXN2;MOTIFS=CTG;STRUC= chr12 123532573 123532603 ID=OPDM4_RILPL1;MOTIFS=GGC;STRUC= -chr13 69361213 69361270 ID=SCA8_ATXN8OS;MOTIFS=CTA,CTG;STRUC= +chr13 69361185 69361270 ID=SCA8_ATXN8OS;MOTIFS=CTA,CTG;STRUC= chr13 99196358 99196404 ID=HPE5_ZIC2;MOTIFS=GCN;STRUC= chr13 101377549 101377792 ID=SCA27B_FGF14;MOTIFS=GAA,GAAGGA,GAAGAAGAAGAAGCA;STRUC= chr14 17522488 17522519 ID=OPMD_PABPN1;MOTIFS=GCN;STRUC= diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed b/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed index 86e42039..872256ab 100644 --- a/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed +++ b/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed @@ -42,8 +42,8 @@ chr12 6947903 6947941 CAG 3 DRPLA_ATN1 chr12 50468095 50468118 GGC 3 FRA12A_DIP2B chr12 111575873 111575940 CTG 3 SCA2_ATXN2 chr12 123532573 123532603 GGC 3 OPDM4_RILPL1 -chr13 69361213 69361243 CTA 3 SCA8_ATXN8OS_flank -chr13 69361243 69361270 CTG 3 SCA8_ATXN8OS +chr13 69361185 69361215 CTA 3 SCA8_ATXN8OS_flank +chr13 69361215 69361270 CTG 3 SCA8_ATXN8OS chr13 99196358 99196404 GCN 3 HPE5_ZIC2 chr13 101377549 101377792 GAA 3 SCA27B_FGF14 chr14 17522488 17522519 GCN 3 OPMD_PABPN1 diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz b/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz index abee0b5a..fb7ba43f 100644 Binary files a/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz and b/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz differ diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz.tbi b/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz.tbi index abae9bfb..00f5e297 100644 Binary files a/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz.tbi and b/data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz.tbi differ diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.general.bed b/data/catalogs/STRchive-disease-loci.T2T-chm13.general.bed index 49877b6f..4fef214d 100644 --- a/data/catalogs/STRchive-disease-loci.T2T-chm13.general.bed +++ b/data/catalogs/STRchive-disease-loci.T2T-chm13.general.bed @@ -37,7 +37,7 @@ chr12 6947903 6947941 DRPLA_ATN1 ATN1 CAG CAG 48 AD Dentatorubral-Pallidoluysian chr12 50468095 50468118 FRA12A_DIP2B DIP2B GGC GGC 273 AD Intellectual developmental disorder, FRA12A type chr12 111575873 111575940 SCA2_ATXN2 ATXN2 CTG CTG 35 AD,AR Spinocerebellar ataxia type 2 chr12 123532573 123532603 OPDM4_RILPL1 RILPL1 GGC GGC 120 AD Oculopharyngodistal myopathy type 4 -chr13 69361243 69361270 SCA8_ATXN8OS ATXN8OS CTG CTG 71 AD Spinocerebellar ataxia type 8 +chr13 69361215 69361270 SCA8_ATXN8OS ATXN8OS CTG,CTA CTG,CTA 71 AD Spinocerebellar ataxia type 8 chr13 99196358 99196404 HPE5_ZIC2 ZIC2 GCN GCN 25 AD Holoprosencephaly-5 chr13 101377549 101377792 SCA27B_FGF14 FGF14 GAA GAA 320 AD Spinocerebellar ataxia 27B chr14 17522488 17522519 OPMD_PABPN1 PABPN1 GCN GCN 12 AD,AR Oculopharyngeal muscular dystrophy diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.longTR.bed b/data/catalogs/STRchive-disease-loci.T2T-chm13.longTR.bed index c36c8a4d..83c15857 100644 --- a/data/catalogs/STRchive-disease-loci.T2T-chm13.longTR.bed +++ b/data/catalogs/STRchive-disease-loci.T2T-chm13.longTR.bed @@ -36,7 +36,7 @@ chr12 6947904 6947941 CAG DRPLA_ATN1 chr12 50468096 50468118 GGC FRA12A_DIP2B chr12 111575874 111575940 CTG SCA2_ATXN2 chr12 123532574 123532603 GGC OPDM4_RILPL1 -chr13 69361244 69361270 CTG SCA8_ATXN8OS +chr13 69361216 69361270 CTG,CTA SCA8_ATXN8OS chr13 99196359 99196404 GCN HPE5_ZIC2 chr13 101377550 101377792 GAA,GAAGGA,GAAGAAGAAGAAGCA SCA27B_FGF14 chr14 17522489 17522519 GCN OPMD_PABPN1 diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.straglr.bed b/data/catalogs/STRchive-disease-loci.T2T-chm13.straglr.bed index 2f601147..a9aa61f5 100644 --- a/data/catalogs/STRchive-disease-loci.T2T-chm13.straglr.bed +++ b/data/catalogs/STRchive-disease-loci.T2T-chm13.straglr.bed @@ -40,8 +40,8 @@ chr12 6947903 6947941 CAG DRPLA_ATN1 DRPLA_ATN1 chr12 50468095 50468118 GGC FRA12A_DIP2B FRA12A_DIP2B chr12 111575873 111575940 CTG SCA2_ATXN2 SCA2_ATXN2 chr12 123532573 123532603 GGC OPDM4_RILPL1 OPDM4_RILPL1 -chr13 69361213 69361243 CTA SCA8_ATXN8OS SCA8_ATXN8OS_CTA -chr13 69361243 69361270 CTG SCA8_ATXN8OS SCA8_ATXN8OS +chr13 69361185 69361215 CTA SCA8_ATXN8OS SCA8_ATXN8OS_CTA +chr13 69361215 69361270 CTG SCA8_ATXN8OS SCA8_ATXN8OS chr13 99196358 99196404 GCN HPE5_ZIC2 HPE5_ZIC2 chr13 101377549 101377792 GAA SCA27B_FGF14 SCA27B_FGF14 chr14 17522488 17522519 GCN OPMD_PABPN1 OPMD_PABPN1 diff --git a/data/catalogs/STRchive-disease-loci.T2T-chm13.stranger.json b/data/catalogs/STRchive-disease-loci.T2T-chm13.stranger.json index c24a0a9d..8e63fe73 100644 --- a/data/catalogs/STRchive-disease-loci.T2T-chm13.stranger.json +++ b/data/catalogs/STRchive-disease-loci.T2T-chm13.stranger.json @@ -504,11 +504,11 @@ }, { "LocusId": "SCA8_ATXN8OS", - "ReferenceRegion": ["chr13:69361213-69361243", "chr13:69361243-69361270"], + "ReferenceRegion": ["chr13:69361185-69361215", "chr13:69361215-69361270"], "LocusStructure": "(CTA)*(CTG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["SCA8_ATXN8OS_CTA", "SCA8_ATXN8OS"], - "PathologicRegion": "chr13:69361243-69361270", + "PathologicRegion": "chr13:69361215-69361270", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", diff --git a/data/catalogs/STRchive-disease-loci.hg19.TRGT.bed b/data/catalogs/STRchive-disease-loci.hg19.TRGT.bed index ab47340c..13825101 100644 --- a/data/catalogs/STRchive-disease-loci.hg19.TRGT.bed +++ b/data/catalogs/STRchive-disease-loci.hg19.TRGT.bed @@ -36,7 +36,7 @@ chr12 7045879 7045938 ID=DRPLA_ATN1;MOTIFS=CAG;STRUC= chr12 50898784 50898807 ID=FRA12A_DIP2B;MOTIFS=GGC;STRUC= chr12 112036753 112036823 ID=SCA2_ATXN2;MOTIFS=CTG;STRUC= chr12 124018267 124018297 ID=OPDM4_RILPL1;MOTIFS=GGC;STRUC= -chr13 70713485 70713561 ID=SCA8_ATXN8OS;MOTIFS=CTA,CTG;STRUC= +chr13 70713455 70713561 ID=SCA8_ATXN8OS;MOTIFS=CTA,CTG;STRUC= chr13 100637702 100637748 ID=HPE5_ZIC2;MOTIFS=GCN;STRUC= chr13 102813924 102814076 ID=SCA27B_FGF14;MOTIFS=GAA,GAAGGA,GAAGAAGAAGAAGCA;STRUC= chr14 23790681 23790712 ID=OPMD_PABPN1;MOTIFS=GCN;STRUC= diff --git a/data/catalogs/STRchive-disease-loci.hg19.atarva.bed b/data/catalogs/STRchive-disease-loci.hg19.atarva.bed index 78f66ecc..49b83d3b 100644 --- a/data/catalogs/STRchive-disease-loci.hg19.atarva.bed +++ b/data/catalogs/STRchive-disease-loci.hg19.atarva.bed @@ -42,8 +42,8 @@ chr12 7045879 7045938 CAG 3 DRPLA_ATN1 chr12 50898784 50898807 GGC 3 FRA12A_DIP2B chr12 112036753 112036823 CTG 3 SCA2_ATXN2 chr12 124018267 124018297 GGC 3 OPDM4_RILPL1 -chr13 70713485 70713515 CTA 3 SCA8_ATXN8OS_flank -chr13 70713515 70713561 CTG 3 SCA8_ATXN8OS +chr13 70713455 70713485 CTA 3 SCA8_ATXN8OS_flank +chr13 70713485 70713561 CTG 3 SCA8_ATXN8OS chr13 100637702 100637748 GCN 3 HPE5_ZIC2 chr13 102813924 102814076 GAA 3 SCA27B_FGF14 chr14 23790681 23790712 GCN 3 OPMD_PABPN1 diff --git a/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz b/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz index 98a3a488..1daa48e9 100644 Binary files a/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz and b/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz differ diff --git a/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz.tbi b/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz.tbi index a3f690d9..2e28ad6f 100644 Binary files a/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz.tbi and b/data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz.tbi differ diff --git a/data/catalogs/STRchive-disease-loci.hg19.general.bed b/data/catalogs/STRchive-disease-loci.hg19.general.bed index a44fe09d..cda515d7 100644 --- a/data/catalogs/STRchive-disease-loci.hg19.general.bed +++ b/data/catalogs/STRchive-disease-loci.hg19.general.bed @@ -37,7 +37,7 @@ chr12 7045879 7045938 DRPLA_ATN1 ATN1 CAG CAG 48 AD Dentatorubral-Pallidoluysian chr12 50898784 50898807 FRA12A_DIP2B DIP2B GGC GGC 273 AD Intellectual developmental disorder, FRA12A type chr12 112036753 112036823 SCA2_ATXN2 ATXN2 CTG CTG 35 AD,AR Spinocerebellar ataxia type 2 chr12 124018267 124018297 OPDM4_RILPL1 RILPL1 GGC GGC 120 AD Oculopharyngodistal myopathy type 4 -chr13 70713515 70713561 SCA8_ATXN8OS ATXN8OS CTG CTG 71 AD Spinocerebellar ataxia type 8 +chr13 70713485 70713561 SCA8_ATXN8OS ATXN8OS CTG,CTA CTG,CTA 71 AD Spinocerebellar ataxia type 8 chr13 100637702 100637748 HPE5_ZIC2 ZIC2 GCN GCN 25 AD Holoprosencephaly-5 chr13 102813924 102814076 SCA27B_FGF14 FGF14 GAA GAA 320 AD Spinocerebellar ataxia 27B chr14 23790681 23790712 OPMD_PABPN1 PABPN1 GCN GCN 12 AD,AR Oculopharyngeal muscular dystrophy diff --git a/data/catalogs/STRchive-disease-loci.hg19.longTR.bed b/data/catalogs/STRchive-disease-loci.hg19.longTR.bed index 3ba18238..b1993f7b 100644 --- a/data/catalogs/STRchive-disease-loci.hg19.longTR.bed +++ b/data/catalogs/STRchive-disease-loci.hg19.longTR.bed @@ -36,7 +36,7 @@ chr12 7045880 7045938 CAG DRPLA_ATN1 chr12 50898785 50898807 GGC FRA12A_DIP2B chr12 112036754 112036823 CTG SCA2_ATXN2 chr12 124018268 124018297 GGC OPDM4_RILPL1 -chr13 70713516 70713561 CTG SCA8_ATXN8OS +chr13 70713486 70713561 CTG,CTA SCA8_ATXN8OS chr13 100637703 100637748 GCN HPE5_ZIC2 chr13 102813925 102814076 GAA,GAAGGA,GAAGAAGAAGAAGCA SCA27B_FGF14 chr14 23790682 23790712 GCN OPMD_PABPN1 diff --git a/data/catalogs/STRchive-disease-loci.hg19.straglr.bed b/data/catalogs/STRchive-disease-loci.hg19.straglr.bed index 9e52fca2..0a9a56c9 100644 --- a/data/catalogs/STRchive-disease-loci.hg19.straglr.bed +++ b/data/catalogs/STRchive-disease-loci.hg19.straglr.bed @@ -40,8 +40,8 @@ chr12 7045879 7045938 CAG DRPLA_ATN1 DRPLA_ATN1 chr12 50898784 50898807 GGC FRA12A_DIP2B FRA12A_DIP2B chr12 112036753 112036823 CTG SCA2_ATXN2 SCA2_ATXN2 chr12 124018267 124018297 GGC OPDM4_RILPL1 OPDM4_RILPL1 -chr13 70713485 70713515 CTA SCA8_ATXN8OS SCA8_ATXN8OS_CTA -chr13 70713515 70713561 CTG SCA8_ATXN8OS SCA8_ATXN8OS +chr13 70713455 70713485 CTA SCA8_ATXN8OS SCA8_ATXN8OS_CTA +chr13 70713485 70713561 CTG SCA8_ATXN8OS SCA8_ATXN8OS chr13 100637702 100637748 GCN HPE5_ZIC2 HPE5_ZIC2 chr13 102813924 102814076 GAA SCA27B_FGF14 SCA27B_FGF14 chr14 23790681 23790712 GCN OPMD_PABPN1 OPMD_PABPN1 diff --git a/data/catalogs/STRchive-disease-loci.hg19.stranger.json b/data/catalogs/STRchive-disease-loci.hg19.stranger.json index 9da2ed04..00d119f1 100644 --- a/data/catalogs/STRchive-disease-loci.hg19.stranger.json +++ b/data/catalogs/STRchive-disease-loci.hg19.stranger.json @@ -504,11 +504,11 @@ }, { "LocusId": "SCA8_ATXN8OS", - "ReferenceRegion": ["chr13:70713485-70713515", "chr13:70713515-70713561"], + "ReferenceRegion": ["chr13:70713455-70713485", "chr13:70713485-70713561"], "LocusStructure": "(CTA)*(CTG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["SCA8_ATXN8OS_CTA", "SCA8_ATXN8OS"], - "PathologicRegion": "chr13:70713515-70713561", + "PathologicRegion": "chr13:70713485-70713561", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", diff --git a/data/catalogs/STRchive-disease-loci.hg38.TRGT.bed b/data/catalogs/STRchive-disease-loci.hg38.TRGT.bed index 75c81b02..b7c1335a 100644 --- a/data/catalogs/STRchive-disease-loci.hg38.TRGT.bed +++ b/data/catalogs/STRchive-disease-loci.hg38.TRGT.bed @@ -36,7 +36,7 @@ chr12 6936716 6936775 ID=DRPLA_ATN1;MOTIFS=CAG;STRUC= chr12 50505001 50505024 ID=FRA12A_DIP2B;MOTIFS=GGC;STRUC= chr12 111598949 111599019 ID=SCA2_ATXN2;MOTIFS=CTG;STRUC= chr12 123533720 123533750 ID=OPDM4_RILPL1;MOTIFS=GGC;STRUC= -chr13 70139353 70139429 ID=SCA8_ATXN8OS;MOTIFS=CTA,CTG;STRUC= +chr13 70139323 70139429 ID=SCA8_ATXN8OS;MOTIFS=CTA,CTG;STRUC= chr13 99985448 99985494 ID=HPE5_ZIC2;MOTIFS=GCN;STRUC= chr13 102161574 102161726 ID=SCA27B_FGF14;MOTIFS=GAA,GAAGGA,GAAGAAGAAGAAGCA;STRUC= chr14 23321472 23321503 ID=OPMD_PABPN1;MOTIFS=GCN;STRUC= diff --git a/data/catalogs/STRchive-disease-loci.hg38.atarva.bed b/data/catalogs/STRchive-disease-loci.hg38.atarva.bed index 8311febd..baa1447c 100644 --- a/data/catalogs/STRchive-disease-loci.hg38.atarva.bed +++ b/data/catalogs/STRchive-disease-loci.hg38.atarva.bed @@ -42,8 +42,8 @@ chr12 6936716 6936775 CAG 3 DRPLA_ATN1 chr12 50505001 50505024 GGC 3 FRA12A_DIP2B chr12 111598949 111599019 CTG 3 SCA2_ATXN2 chr12 123533720 123533750 GGC 3 OPDM4_RILPL1 -chr13 70139353 70139383 CTA 3 SCA8_ATXN8OS_flank -chr13 70139383 70139429 CTG 3 SCA8_ATXN8OS +chr13 70139323 70139353 CTA 3 SCA8_ATXN8OS_flank +chr13 70139353 70139429 CTG 3 SCA8_ATXN8OS chr13 99985448 99985494 GCN 3 HPE5_ZIC2 chr13 102161574 102161726 GAA 3 SCA27B_FGF14 chr14 23321472 23321503 GCN 3 OPMD_PABPN1 diff --git a/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz b/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz index 23164d4e..449d726b 100644 Binary files a/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz and b/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz differ diff --git a/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz.tbi b/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz.tbi index 3f8940db..6daa56c3 100644 Binary files a/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz.tbi and b/data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz.tbi differ diff --git a/data/catalogs/STRchive-disease-loci.hg38.general.bed b/data/catalogs/STRchive-disease-loci.hg38.general.bed index b77e7175..755b77cd 100644 --- a/data/catalogs/STRchive-disease-loci.hg38.general.bed +++ b/data/catalogs/STRchive-disease-loci.hg38.general.bed @@ -37,7 +37,7 @@ chr12 6936716 6936775 DRPLA_ATN1 ATN1 CAG CAG 48 AD Dentatorubral-Pallidoluysian chr12 50505001 50505024 FRA12A_DIP2B DIP2B GGC GGC 273 AD Intellectual developmental disorder, FRA12A type chr12 111598949 111599019 SCA2_ATXN2 ATXN2 CTG CTG 35 AD,AR Spinocerebellar ataxia type 2 chr12 123533720 123533750 OPDM4_RILPL1 RILPL1 GGC GGC 120 AD Oculopharyngodistal myopathy type 4 -chr13 70139383 70139429 SCA8_ATXN8OS ATXN8OS CTG CTG 71 AD Spinocerebellar ataxia type 8 +chr13 70139353 70139429 SCA8_ATXN8OS ATXN8OS CTG,CTA CTG,CTA 71 AD Spinocerebellar ataxia type 8 chr13 99985448 99985494 HPE5_ZIC2 ZIC2 GCN GCN 25 AD Holoprosencephaly-5 chr13 102161574 102161726 SCA27B_FGF14 FGF14 GAA GAA 320 AD Spinocerebellar ataxia 27B chr14 23321472 23321503 OPMD_PABPN1 PABPN1 GCN GCN 12 AD,AR Oculopharyngeal muscular dystrophy diff --git a/data/catalogs/STRchive-disease-loci.hg38.longTR.bed b/data/catalogs/STRchive-disease-loci.hg38.longTR.bed index 8a36b988..4ba04b5c 100644 --- a/data/catalogs/STRchive-disease-loci.hg38.longTR.bed +++ b/data/catalogs/STRchive-disease-loci.hg38.longTR.bed @@ -36,7 +36,7 @@ chr12 6936717 6936775 CAG DRPLA_ATN1 chr12 50505002 50505024 GGC FRA12A_DIP2B chr12 111598950 111599019 CTG SCA2_ATXN2 chr12 123533721 123533750 GGC OPDM4_RILPL1 -chr13 70139384 70139429 CTG SCA8_ATXN8OS +chr13 70139354 70139429 CTG,CTA SCA8_ATXN8OS chr13 99985449 99985494 GCN HPE5_ZIC2 chr13 102161575 102161726 GAA,GAAGGA,GAAGAAGAAGAAGCA SCA27B_FGF14 chr14 23321473 23321503 GCN OPMD_PABPN1 diff --git a/data/catalogs/STRchive-disease-loci.hg38.straglr.bed b/data/catalogs/STRchive-disease-loci.hg38.straglr.bed index 6b4a89c4..9fa8c0c0 100644 --- a/data/catalogs/STRchive-disease-loci.hg38.straglr.bed +++ b/data/catalogs/STRchive-disease-loci.hg38.straglr.bed @@ -40,8 +40,8 @@ chr12 6936716 6936775 CAG DRPLA_ATN1 DRPLA_ATN1 chr12 50505001 50505024 GGC FRA12A_DIP2B FRA12A_DIP2B chr12 111598949 111599019 CTG SCA2_ATXN2 SCA2_ATXN2 chr12 123533720 123533750 GGC OPDM4_RILPL1 OPDM4_RILPL1 -chr13 70139353 70139383 CTA SCA8_ATXN8OS SCA8_ATXN8OS_CTA -chr13 70139383 70139429 CTG SCA8_ATXN8OS SCA8_ATXN8OS +chr13 70139323 70139353 CTA SCA8_ATXN8OS SCA8_ATXN8OS_CTA +chr13 70139353 70139429 CTG SCA8_ATXN8OS SCA8_ATXN8OS chr13 99985448 99985494 GCN HPE5_ZIC2 HPE5_ZIC2 chr13 102161574 102161726 GAA SCA27B_FGF14 SCA27B_FGF14 chr14 23321472 23321503 GCN OPMD_PABPN1 OPMD_PABPN1 diff --git a/data/catalogs/STRchive-disease-loci.hg38.stranger.json b/data/catalogs/STRchive-disease-loci.hg38.stranger.json index 3231f70c..5c3c638f 100644 --- a/data/catalogs/STRchive-disease-loci.hg38.stranger.json +++ b/data/catalogs/STRchive-disease-loci.hg38.stranger.json @@ -504,11 +504,11 @@ }, { "LocusId": "SCA8_ATXN8OS", - "ReferenceRegion": ["chr13:70139353-70139383", "chr13:70139383-70139429"], + "ReferenceRegion": ["chr13:70139323-70139353", "chr13:70139353-70139429"], "LocusStructure": "(CTA)*(CTG)*", "VariantType": ["Repeat", "Repeat"], "VariantId": ["SCA8_ATXN8OS_CTA", "SCA8_ATXN8OS"], - "PathologicRegion": "chr13:70139383-70139429", + "PathologicRegion": "chr13:70139353-70139429", "HGNCId": null, "InheritanceMode": ["AD"], "DisplayRU": "CTG", diff --git a/data/ref-alleles/ref-alleles.T2T-chm13.txt b/data/ref-alleles/ref-alleles.T2T-chm13.txt index 1ce62e6a..c5eccaec 100644 --- a/data/ref-alleles/ref-alleles.T2T-chm13.txt +++ b/data/ref-alleles/ref-alleles.T2T-chm13.txt @@ -227,10 +227,10 @@ CTCCCGAGTG GGC GGC GGC GGC GGC GGC GGC GGC GGC GGC AGCGGGGAGG CTCCCGAGTG GGC GGC GGC GGC GGC GGC GGC GGC GGC GGC AGCGGGGAGG SCA8_ATXN8OS -chr13 69361243 69361270 CTG STRchive -chr13 69361213 69361270 CTA,CTG TRGT -AAACCTGGCTTTACTACTACTACTACTACTACTACTACTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CATTTTTTAA -AAACCTGGCT TTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CATTTTTTAA +chr13 69361215 69361270 CTG,CTA STRchive +chr13 69361185 69361270 CTA,CTG TRGT +GGCTAGACCCTGGGTCCTTCATGTTAGAAAACCTGGCTTT A CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CATTTTTTAA +GGCTAGACCC TGGGTCCTTCATGTTAGAAAAC CTG GCTTTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CATTTTTTAA HPE5_ZIC2 chr13 99196358 99196404 GCN STRchive diff --git a/data/ref-alleles/ref-alleles.hg19.txt b/data/ref-alleles/ref-alleles.hg19.txt index 4571380e..a68c384c 100644 --- a/data/ref-alleles/ref-alleles.hg19.txt +++ b/data/ref-alleles/ref-alleles.hg19.txt @@ -227,10 +227,10 @@ CTCCCGAGTG GGC GGC GGC GGC GGC GGC GGC GGC GGC GGC AGCGGGGAGG CTCCCGAGTG GGC GGC GGC GGC GGC GGC GGC GGC GGC GGC AGCGGGGAGG SCA8_ATXN8OS -chr13 70713515 70713561 CTG STRchive -chr13 70713485 70713561 CTA,CTG TRGT -CCTGGCTTTACTACTACTACTACTACTACTACTACTACTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG C ATTTTTTAAA -CCTGGCTTTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG C ATTTTTTAAA +chr13 70713485 70713561 CTG,CTA STRchive +chr13 70713455 70713561 CTA,CTG TRGT +GCTAGACCCTGGGTCCTTCATGTTAGAAAACCTGGCTTTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG C ATTTTTTAAA +GCTAGACCCT GGGTCCTTCATGTTAGAAAAC CTG GCTTTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG C ATTTTTTAAA HPE5_ZIC2 chr13 100637702 100637748 GCN STRchive diff --git a/data/ref-alleles/ref-alleles.hg38.txt b/data/ref-alleles/ref-alleles.hg38.txt index a7875038..364df873 100644 --- a/data/ref-alleles/ref-alleles.hg38.txt +++ b/data/ref-alleles/ref-alleles.hg38.txt @@ -227,10 +227,10 @@ CTCCCGAGTG GGC GGC GGC GGC GGC GGC GGC GGC GGC GGC AGCGGGGAGG CTCCCGAGTG GGC GGC GGC GGC GGC GGC GGC GGC GGC GGC AGCGGGGAGG SCA8_ATXN8OS -chr13 70139383 70139429 CTG STRchive -chr13 70139353 70139429 CTA,CTG TRGT -CCTGGCTTTACTACTACTACTACTACTACTACTACTACTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG C ATTTTTTAAA -CCTGGCTTTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG C ATTTTTTAAA +chr13 70139353 70139429 CTG,CTA STRchive +chr13 70139323 70139429 CTA,CTG TRGT +GCTAGACCCTGGGTCCTTCATGTTAGAAAACCTGGCTTTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG C ATTTTTTAAA +GCTAGACCCT GGGTCCTTCATGTTAGAAAAC CTG GCTTTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG C ATTTTTTAAA HPE5_ZIC2 chr13 99985448 99985494 GCN STRchive