Skip to content
Open
Show file tree
Hide file tree
Changes from all commits
Commits
File filter

Filter by extension

Filter by extension

Conversations
Failed to load comments.
Loading
Jump to
Jump to file
Failed to load files.
Loading
Diff view
Diff view
254 changes: 127 additions & 127 deletions data/STRchive-loci.json

Large diffs are not rendered by default.

44 changes: 28 additions & 16 deletions data/STRchive-loci.schema.json
Original file line number Diff line number Diff line change
Expand Up @@ -4,6 +4,16 @@
"title": "STRchive-loci",
"description": "STRchive tandem repeat disease locus",
"citation_format": "In free text strings: 'Some text [@doi:12345; @pmid:12345]'. In regular lists: ['doi:12345', 'pmid:12345']",
"canonical_motifs": [
"CAG",
"CCG",
"CGG",
"CTG",
"GCN",
"CAA",
"TTTCA",
"AAATG"
],
"type": "object",
"properties": {
"id": {
Expand Down Expand Up @@ -270,6 +280,7 @@
"type": ["string", "null"],
"enum": ["+", "-"]
},

"reference_motif_reference_orientation": {
"section": "Alleles",
"title": "Reference Motif (Reference Orientation)",
Expand All @@ -286,9 +297,11 @@
"pathogenic_motif_reference_orientation": {
"section": "Alleles",
"title": "Pathogenic Motif (Reference Orientation)",
"description": "Pathogenic motif(s) in the + reference orientation. May be the same as the reference motif if it is pathogenic when expanded or contracted.",
"description": "Pathogenic motif(s) in the + reference orientation. May be the same as the reference motif if it is pathogenic when expanded or contracted. Automatically generated from pathogenic_motif_gene_orientation and gene_strand. Should not be manually edited.",
"examples": ["AAGGG", "ACAGG"],
"type": "array",
"auto_generated": true,
"hide": "true",
"uniqueItems": true,
"items": {
"title": "",
Expand All @@ -299,9 +312,11 @@
"benign_motif_reference_orientation": {
"section": "Alleles",
"title": "Benign Motif (Reference Orientation)",
"description": "Benign motif(s) in the + reference orientation. Benign motifs are not known to be pathogenic at any size. May be the same as the reference motif if it is benign.",
"description": "Benign motif(s) in the + reference orientation. Benign motifs are not known to be pathogenic at any size. May be the same as the reference motif if it is benign. Automatically generated from benign_motif_gene_orientation and gene_strand. Should not be manually edited.",
"examples": ["AAAAG"],
"type": "array",
"auto_generated": true,
"hide": "true",
"uniqueItems": true,
"items": {
"title": "",
Expand All @@ -312,9 +327,11 @@
"unknown_motif_reference_orientation": {
"section": "Alleles",
"title": "Unknown Motif (Reference Orientation)",
"description": "Motif(s) of unknown consequence in the + reference orientation. Only include motifs that have been observed in individuals but are not classified elsewhere.",
"description": "Motif(s) of unknown consequence in the + reference orientation. Automatically generated from unknown_motif_gene_orientation and gene_strand. Should not be manually edited.",
"examples": ["AAAAG"],
"type": "array",
"auto_generated": true,
"hide": "true",
"uniqueItems": true,
"items": {
"title": "",
Expand All @@ -325,9 +342,11 @@
"interruption_reference_orientation": {
"section": "Alleles",
"title": "Interruption (Reference Orientation)",
"description": "Interruption(s) in the + reference orientation. Only include interruptions that have been observed in individuals. These should typically be reported in the context of the motif, for example a CAG -> CAA interruption would be reported as CAA, not A",
"description": "Interruption(s) in the + reference orientation. Only include interruptions that have been observed in individuals. Automatically generated from interruption_gene_orientation and gene_strand. Should not be manually edited.",
"examples": ["CAA"],
"type": "array",
"auto_generated": true,
"hide": "true",
"uniqueItems": true,
"items": {
"title": "",
Expand All @@ -338,11 +357,10 @@
"pathogenic_motif_gene_orientation": {
"section": "Alleles",
"title": "Pathogenic Motif (Gene Orientation)",
"description": "Pathogenic motif(s) in the gene orientation, so the reverse complement if gene is on - strand. Automatically generated from pathogenic_motif_reference_orientation and gene_strand. Should not be manually edited.",
"description": "Pathogenic motif(s) in the gene orientation, so the reverse complement if gene is on - strand.",
"examples": ["CCCTT", "CCTGT"],
"type": "array",
"auto_generated": true,
"hide": "true",

"uniqueItems": true,
"items": {
"title": "",
Expand All @@ -353,11 +371,9 @@
"benign_motif_gene_orientation": {
"section": "Alleles",
"title": "Benign Motif (Gene Orientation)",
"description": "Benign motif(s) in the gene orientation, so the reverse complement if gene is on - strand. Automatically generated from benign_motif_reference_orientation and gene_strand. Should not be manually edited.",
"description": "Benign motif(s) in the gene orientation, so the reverse complement if gene is on - strand.",
"examples": ["CCCTT", "CCTGT"],
"type": "array",
"auto_generated": true,
"hide": "true",
"uniqueItems": true,
"items": {
"title": "",
Expand All @@ -368,11 +384,9 @@
"unknown_motif_gene_orientation": {
"section": "Alleles",
"title": "Unknown Motif (Gene Orientation)",
"description": "Motif(s) of unknown consequence in the gene orientation, so the reverse complement if gene is on - strand. Automatically generated from unknown_motif_reference_orientation and gene_strand. Should not be manually edited.",
"description": "Motif(s) of unknown consequence in the gene orientation, so the reverse complement if gene is on - strand. Only include motifs that have been observed in individuals but are not classified elsewhere.",
"examples": ["CCCTT", "CCTGT"],
"type": "array",
"auto_generated": true,
"hide": "true",
"uniqueItems": true,
"items": {
"title": "",
Expand All @@ -383,11 +397,9 @@
"interruption_gene_orientation": {
"section": "Alleles",
"title": "Interruption (Gene Orientation)",
"description": "Interruption(s) in the gene orientation, so the reverse complement if gene is on - strand. Automatically generated from interruption_reference_orientation and gene_strand. Should not be manually edited.",
"description": "Interruption(s) in the gene orientation, so the reverse complement if gene is on - strand. These should typically be reported in the context of the motif, for example a CAG -> CAA interruption would be reported as CAA, not A.",
"examples": ["TTG"],
"type": "array",
"auto_generated": true,
"hide": "true",
"uniqueItems": true,
"items": {
"title": "",
Expand Down
92 changes: 46 additions & 46 deletions data/catalogs/STRchive-disease-loci.T2T-chm13.TRGT.bed
Original file line number Diff line number Diff line change
@@ -1,80 +1,80 @@
chr1 870158 870178 ID=HMNR7_VWA1;MOTIFS=GGCGCGGAGC;STRUC=<TR>
chr1 57245935 57245973 ID=SCA37_DAB1;MOTIFS=AAAAT,GAAAT;STRUC=<TR>
chr1 94266544 94266567 ID=OPDM5_ABCD3;MOTIFS=GCC;STRUC=<TR>
chr1 148519695 148519738 ID=NIID_NOTCH2NLC;MOTIFS=GGC;STRUC=<TR>
chr1 154328121 154330802 ID=ADTKD_MUC1;MOTIFS=GCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCA,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,GCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCA;STRUC=<TR>
chr1 155728131 155728159 ID=NME_NAXE;MOTIFS=GGGCC;STRUC=<TR>
chr2 96703674 96703732 ID=FAME2_STARD7;MOTIFS=AAATG,AAAAT;STRUC=<TR>
chr2 100563685 100563738 ID=FRA2A_AFF3;MOTIFS=GCC;STRUC=<TR>
chr1 870158 870178 ID=HMNR7_VWA1;MOTIFS=AGCGGCGCGG,GGCGCGGAGC;STRUC=<TR>
chr1 57245935 57245973 ID=SCA37_DAB1;MOTIFS=AAAAT,GAAAT,TGAAA;STRUC=<TR>
chr1 94266544 94266567 ID=OPDM5_ABCD3;MOTIFS=CCG;STRUC=<TR>
chr1 148519695 148519738 ID=NIID_NOTCH2NLC;MOTIFS=CGG;STRUC=<TR>
chr1 154328121 154330802 ID=ADTKD_MUC1;MOTIFS=ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG,GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG,ACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG;STRUC=<TR>
chr1 155728131 155728159 ID=NME_NAXE;MOTIFS=CCGGG,GGGCC;STRUC=<TR>
chr2 96703674 96703732 ID=FAME2_STARD7;MOTIFS=AAATG,AAAAT,TGAAA;STRUC=<TR>
chr2 100563685 100563738 ID=FRA2A_AFF3;MOTIFS=CCG;STRUC=<TR>
chr2 176581179 176581224 ID=SD5_HOXD13;MOTIFS=GCN;STRUC=<TR>
chr2 191369982 191370024 ID=GDPAG_GLS;MOTIFS=GCA;STRUC=<TR>
chr2 191369982 191370024 ID=GDPAG_GLS;MOTIFS=CAG;STRUC=<TR>
chr3 63956302 63956345 ID=SCA7_ATXN7;MOTIFS=CAG,CCG;STRUC=<TR>
chr3 131917482 131917635 ID=DM2_CNBP;MOTIFS=CAGG,CAGA,CA;STRUC=<TR>
chr3 141687011 141687054 ID=BPES_FOXL2;MOTIFS=NGC;STRUC=<TR>
chr3 141687011 141687054 ID=BPES_FOXL2;MOTIFS=NGC,GCN;STRUC=<TR>
chr3 186521667 186521706 ID=FAME4_YEATS2;MOTIFS=TTTTA,TTTCA;STRUC=<TR>
chr4 3073603 3073723 ID=HD_HTT;MOTIFS=CAG,CCG;STRUC=<TR>
chr4 39318077 39318136 ID=CANVAS_RFC1;MOTIFS=AAAAG,AAGGG,ACAGG,AAAGG,AGGGC,AAAGGG;STRUC=<TR>
chr4 41719745 41719805 ID=CCHS_PHOX2B;MOTIFS=GCN;STRUC=<TR>
chr4 39318077 39318136 ID=CANVAS_RFC1;MOTIFS=AAAAG,AAGGG,ACAGG,AAAGG,CAGGG,AAAGGG;STRUC=<TR>
chr4 41719745 41719805 ID=CCHS_PHOX2B;MOTIFS=NGC,GCN;STRUC=<TR>
chr4 162693303 162693405 ID=FAME7_RAPGEF2;MOTIFS=TTTTA,TTTCA;STRUC=<TR>
chr5 10295525 10295593 ID=FAME3_MARCHF6;MOTIFS=TTTTA,TTTCA;STRUC=<TR>
chr5 147414733 147414780 ID=SCA12_PPP2R2B;MOTIFS=GCT;STRUC=<TR>
chr5 178096748 178096792 ID=OPDM_FAM193B;MOTIFS=GCC;STRUC=<TR>
chr6 13201716 13201843 ID=OPDM_TBC1D7;MOTIFS=GCC;STRUC=<TR>
chr5 147414733 147414780 ID=SCA12_PPP2R2B;MOTIFS=CTG;STRUC=<TR>
chr5 178096748 178096792 ID=OPDM_FAM193B;MOTIFS=CCG;STRUC=<TR>
chr6 13201716 13201843 ID=OPDM_TBC1D7;MOTIFS=CCG;STRUC=<TR>
chr6 16200188 16200282 ID=SCA1_ATXN1;MOTIFS=CTG;STRUC=<TR>
chr6 45257567 45257618 ID=CCD_RUNX2;MOTIFS=GCN;STRUC=<TR>
chr6 171935458 171935569 ID=SCA17_TBP;MOTIFS=CAG;STRUC=<TR>
chr7 27335684 27335720 ID=HFG_HOXA13-III;MOTIFS=NGC;STRUC=<TR>
chr7 27335813 27335849 ID=HFG_HOXA13-II;MOTIFS=NGC;STRUC=<TR>
chr7 27335912 27335954 ID=HFG_HOXA13-I;MOTIFS=NGC;STRUC=<TR>
chr7 56047900 56047939 ID=FRA7A_ZNF713;MOTIFS=GCG;STRUC=<TR>
chr8 105716409 105716441 ID=OPDM1_LRP12;MOTIFS=CGC;STRUC=<TR>
chr7 27335684 27335720 ID=HFG_HOXA13-III;MOTIFS=NGC,GCN;STRUC=<TR>
chr7 27335813 27335849 ID=HFG_HOXA13-II;MOTIFS=NGC,GCN;STRUC=<TR>
chr7 27335912 27335954 ID=HFG_HOXA13-I;MOTIFS=NGC,GCN;STRUC=<TR>
chr7 56047900 56047939 ID=FRA7A_ZNF713;MOTIFS=CGG;STRUC=<TR>
chr8 105716409 105716441 ID=OPDM1_LRP12;MOTIFS=CCG;STRUC=<TR>
chr8 119495247 119495353 ID=FAME1_SAMD12;MOTIFS=TAAAA,TGAAA;STRUC=<TR>
chr9 27584063 27584155 ID=FTDALS1_C9orf72;MOTIFS=GGCCCC;STRUC=<TR>
chr9 81210818 81210861 ID=FRDA_FXN;MOTIFS=A,GAA;STRUC=<TR>
chr9 142886568 142886595 ID=HSAN-VIII_PRDM12;MOTIFS=GCC;STRUC=<TR>
chr9 145285333 145285861 ID=MODY8_CEL;MOTIFS=GGCCCCCCCGTGCCGCCCACGGGTGACTCCGG,GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG;STRUC=<TR>
chr10 80695718 80695748 ID=OPML1_NUTM2B-AS1;MOTIFS=GGC;STRUC=<TR>
chr9 27584063 27584155 ID=FTDALS1_C9orf72;MOTIFS=CCCCGG,GGCCCC;STRUC=<TR>
chr9 81210818 81210861 ID=FRDA_FXN;MOTIFS=A,GAA,AAG;STRUC=<TR>
chr9 142886568 142886595 ID=HSAN-VIII_PRDM12;MOTIFS=CCG;STRUC=<TR>
chr9 145285333 145285861 ID=MODY8_CEL;MOTIFS=GGCCCCCCCGTGCCGCCCACGGGTGACTCCGG,ACGGGTGACTCCGGGGCCCCCCCGTGCCGCCC,GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG;STRUC=<TR>
chr10 80695718 80695748 ID=OPML1_NUTM2B-AS1;MOTIFS=CGG;STRUC=<TR>
chr11 119226662 119226696 ID=JBS_CBL;MOTIFS=CGG;STRUC=<TR>
chr12 6947903 6947941 ID=DRPLA_ATN1;MOTIFS=CAG;STRUC=<TR>
chr12 50468095 50468118 ID=FRA12A_DIP2B;MOTIFS=GGC;STRUC=<TR>
chr12 50468095 50468118 ID=FRA12A_DIP2B;MOTIFS=CGG;STRUC=<TR>
chr12 111575873 111575940 ID=SCA2_ATXN2;MOTIFS=CTG;STRUC=<TR>
chr12 123532573 123532603 ID=OPDM4_RILPL1;MOTIFS=GGC;STRUC=<TR>
chr12 123532573 123532603 ID=OPDM4_RILPL1;MOTIFS=CGG;STRUC=<TR>
chr13 69361213 69361270 ID=SCA8_ATXN8OS;MOTIFS=CTA,CTG;STRUC=<TR>
chr13 99196358 99196404 ID=HPE5_ZIC2;MOTIFS=GCN;STRUC=<TR>
chr13 101377549 101377792 ID=SCA27B_FGF14;MOTIFS=GAA,GGA,GCA;STRUC=<TR>
chr13 101377549 101377792 ID=SCA27B_FGF14;MOTIFS=AAG,GAA,AGG,CAG;STRUC=<TR>
chr14 17522488 17522519 ID=OPMD_PABPN1;MOTIFS=GCN;STRUC=<TR>
chr14 86300519 86300603 ID=SCA3_ATXN3;MOTIFS=CTG;STRUC=<TR>
chr15 20458510 20458536 ID=ALS1_NIPA1;MOTIFS=GCG;STRUC=<TR>
chr15 20458510 20458536 ID=ALS1_NIPA1;MOTIFS=CGG;STRUC=<TR>
chr15 32225152 32225178 ID=aFTLD-U_GOLGA8A;MOTIFS=CT,TTTC,CCTT,CCCTCT;STRUC=<TR>
chr15 86324038 86324057 ID=CHNG3_MIR7-2;MOTIFS=TTTG;STRUC=<TR>
chr15 87088402 87088452 ID=CPEO_POLG;MOTIFS=GCT,GTT;STRUC=<TR>
chr16 17477909 17478002 ID=DBQD2_XYLT1;MOTIFS=GCC;STRUC=<TR>
chr15 86324038 86324057 ID=CHNG3_MIR7-2;MOTIFS=GTTT,TTTG;STRUC=<TR>
chr15 87088402 87088452 ID=CPEO_POLG;MOTIFS=GCT,GTT,CTG;STRUC=<TR>
chr16 17477909 17478002 ID=DBQD2_XYLT1;MOTIFS=GCC,CCG;STRUC=<TR>
chr16 24890366 24890430 ID=FAME6_TNRC6A;MOTIFS=TTTTA,TTTCA;STRUC=<TR>
chr16 72284666 72284761 ID=SCA31_BEAN1;MOTIFS=TGGAA,TAGAA,AATAA;STRUC=<TR>
chr16 72284666 72284761 ID=SCA31_BEAN1;MOTIFS=AATGG,AATAG,AATAA;STRUC=<TR>
chr16 73638636 73638724 ID=SCA_THAP11;MOTIFS=CAG;STRUC=<TR>
chr16 78605502 78605569 ID=SCA4_ZFHX3;MOTIFS=GCC;STRUC=<TR>
chr16 78605502 78605569 ID=SCA4_ZFHX3;MOTIFS=CCG;STRUC=<TR>
chr16 93675723 93675776 ID=HDL2_JPH3;MOTIFS=CTG;STRUC=<TR>
chr17 17754961 17755053 ID=FAME8_RAI1;MOTIFS=TTTTA,TTTCA;STRUC=<TR>
chr17 81047404 81047534 ID=RCPS_EIF4A3;MOTIFS=CCTCGCTGTGCCGCTGCCGA;STRUC=<TR>
chr17 17754961 17755053 ID=FAME8_RAI1;MOTIFS=TTTTA,TTTCA,ATTTT;STRUC=<TR>
chr17 81047404 81047534 ID=RCPS_EIF4A3;MOTIFS=GCCGCTGCCGACCTCGCTGT,CCTCGCTGTGCCGCTGCCGA;STRUC=<TR>
chr18 821235 821905 ID=CPUM_TYMS;MOTIFS=GATGGT;STRUC=<TR>
chr18 55789233 55789288 ID=FECD3_TCF4;MOTIFS=CAG;STRUC=<TR>
chr19 4494212 4497342 ID=MRUPAV_PLIN4;MOTIFS=TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC;STRUC=<TR>
chr19 4494212 4497342 ID=MRUPAV_PLIN4;MOTIFS=GGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTACTGGTGTCCACGCCGGTCTGGATGGTTCCTTT,TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC;STRUC=<TR>
chr19 13333136 13333176 ID=SCA6_CACNA1A;MOTIFS=CTG;STRUC=<TR>
chr19 14622655 14622692 ID=OPDM2_GIPC1;MOTIFS=CCG;STRUC=<TR>
chr19 18921630 18921645 ID=EDM1-PSACH_COMP;MOTIFS=GTC;STRUC=<TR>
chr19 18921630 18921645 ID=EDM1-PSACH_COMP;MOTIFS=CGT,GTC;STRUC=<TR>
chr19 48597739 48597756 ID=DM1_DMPK;MOTIFS=CAG;STRUC=<TR>
chr20 2683189 2683248 ID=SCA36_NOP56;MOTIFS=GGCCTG,CGCCTG;STRUC=<TR>
chr20 4738606 4738705 ID=CJD_PRNP;MOTIFS=CCTCAGGGCGGTGGTGGCTGGGGGCAG,CCTCATGGTGGTGGCTGGGGGCAG,GGTGGTGGCTGGGGGCAGCCTCAT;STRUC=<TR>
chr20 2683189 2683248 ID=SCA36_NOP56;MOTIFS=GGCCTG,CGCCTG,CCTGGG;STRUC=<TR>
chr20 4738606 4738705 ID=CJD_PRNP;MOTIFS=CCTCAGGGCGGTGGTGGCTGGGGGCAG,CCTCATGGTGGTGGCTGGGGGCAG,AGCCTCATGGTGGTGGCTGGGGGC,GGTGGTGGCTGGGGGCAGCCTCAT;STRUC=<TR>
chr21 42132054 42132091 ID=EPM1_CSTB;MOTIFS=CGCGGGGCGGGG;STRUC=<TR>
chr22 20143615 20143660 ID=TOF_TBX1;MOTIFS=GCN;STRUC=<TR>
chr22 38781587 38781680 ID=EPM_CSNK1E;MOTIFS=CCG;STRUC=<TR>
chr22 46280059 46280134 ID=SCA10_ATXN10;MOTIFS=ATTCT;STRUC=<TR>
chrX 24597766 24597802 ID=PRTS_ARX;MOTIFS=NGC;STRUC=<TR>
chrX 24597886 24597934 ID=EIEE1_ARX;MOTIFS=NGC;STRUC=<TR>
chrX 30882677 30882751 ID=DMD_DMD;MOTIFS=TTC,T;STRUC=<TR>
chrX 65975147 65975250 ID=SBMA_AR;MOTIFS=GCA;STRUC=<TR>
chrX 24597766 24597802 ID=PRTS_ARX;MOTIFS=NGC,GCN;STRUC=<TR>
chrX 24597886 24597934 ID=EIEE1_ARX;MOTIFS=NGC,GCN;STRUC=<TR>
chrX 30882677 30882751 ID=DMD_DMD;MOTIFS=TTC,T,CTT;STRUC=<TR>
chrX 65975147 65975250 ID=SBMA_AR;MOTIFS=CAG;STRUC=<TR>
chrX 69887153 69887230 ID=XDP_TAF1;MOTIFS=AGAGGG;STRUC=<TR>
chrX 135876774 135876804 ID=VACTERLX_ZIC3;MOTIFS=GCN;STRUC=<TR>
chrX 138816203 138816248 ID=XLID_SOX3;MOTIFS=NGC;STRUC=<TR>
chrX 138816203 138816248 ID=XLID_SOX3;MOTIFS=NGC,GCN;STRUC=<TR>
chrX 146176677 146176769 ID=FXS_FMR1;MOTIFS=CGG;STRUC=<TR>
chrX 146765190 146765342 ID=FRAXE_AFF2;MOTIFS=GCC;STRUC=<TR>
chrX 146765190 146765342 ID=FRAXE_AFF2;MOTIFS=CCG;STRUC=<TR>
Loading
Loading