Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SYT13 | Human | Cocaine-Related Disorders | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:18438686 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SYT13 | Human | Cocaine-Related Disorders | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:18438686 | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889549 | PMID:10718198 | PMID:11076863 | PMID:11171101 | PMID:11230166 | PMID:11256614 | PMID:11543631 | PMID:12477932 | PMID:15342556 | PMID:15489334 | PMID:15489336 | PMID:16381901 |
PMID:18202767 | PMID:20379614 | PMID:20840848 | PMID:21873635 | PMID:22632162 | PMID:29741294 | PMID:30021884 | PMID:31055693 | PMID:31625195 | PMID:31939613 | PMID:32065260 | PMID:33961781 |
PMID:34677264 | PMID:35337019 | PMID:35753051 | PMID:36630025 |
SYT13 (Homo sapiens - human) |
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Syt13 (Mus musculus - house mouse) |
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Syt13 (Rattus norvegicus - Norway rat) |
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Syt13 (Chinchilla lanigera - long-tailed chinchilla) |
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SYT13 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SYT13 (Canis lupus familiaris - dog) |
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Syt13 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SYT13 (Sus scrofa - pig) |
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SYT13 (Chlorocebus sabaeus - green monkey) |
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Syt13 (Heterocephalus glaber - naked mole-rat) |
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Variants in SYT13
19 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 11p11.2(chr11:45272625-45532378)x3 | copy number gain | See cases [RCV000051906] | Chr11:45272625..45532378 [GRCh38] Chr11:45294176..45553928 [GRCh37] Chr11:45250752..45510504 [NCBI36] Chr11:11p11.2 |
uncertain significance |
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 | copy number loss | See cases [RCV000052679] | Chr11:35663578..46959820 [GRCh38] Chr11:35685126..46981371 [GRCh37] Chr11:35641702..46937947 [NCBI36] Chr11:11p13-11.2 |
pathogenic |
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] | Chr11:36508280..48643003 [GRCh38] Chr11:36529830..48664555 [GRCh37] Chr11:36486406..48621131 [NCBI36] Chr11:11p12-11.2 |
pathogenic |
GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1 | copy number loss | See cases [RCV000052681] | Chr11:44136593..46121139 [GRCh38] Chr11:44158143..46142690 [GRCh37] Chr11:44114719..46099266 [NCBI36] Chr11:11p11.2 |
pathogenic |
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 | copy number loss | See cases [RCV000135405] | Chr11:41118322..48643003 [GRCh38] Chr11:41139872..48664555 [GRCh37] Chr11:41096448..48621131 [NCBI36] Chr11:11p12-11.2 |
pathogenic |
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 | copy number loss | See cases [RCV000137391] | Chr11:39179252..49135735 [GRCh38] Chr11:39200802..49157287 [GRCh37] Chr11:39157378..49113863 [NCBI36] Chr11:11p12-11.12 |
pathogenic |
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 | copy number gain | See cases [RCV000139422] | Chr11:42727555..49135735 [GRCh38] Chr11:42749105..49157287 [GRCh37] Chr11:42705681..49113863 [NCBI36] Chr11:11p12-11.12 |
likely pathogenic |
GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1 | copy number loss | See cases [RCV000142289] | Chr11:42553659..46114792 [GRCh38] Chr11:42575209..46136343 [GRCh37] Chr11:42531785..46092919 [NCBI36] Chr11:11p12-11.2 |
pathogenic |
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 | copy number loss | See cases [RCV000446383] | Chr11:42475897..48372559 [GRCh37] Chr11:11p12-11.2 |
pathogenic |
GRCh37/hg19 11p14.1-11.2(chr11:29238811-45494063)x1 | copy number loss | See cases [RCV000445800] | Chr11:29238811..45494063 [GRCh37] Chr11:11p14.1-11.2 |
pathogenic |
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 | copy number gain | See cases [RCV000448603] | Chr11:26574629..50508019 [GRCh37] Chr11:11p14.2-11.12 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) | copy number gain | See cases [RCV000511729] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 | copy number gain | See cases [RCV000510881] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 | copy number gain | not provided [RCV000737348] | Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 | copy number gain | not provided [RCV000749874] | Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p11.2(chr11:45229091-46342834)x3 | copy number gain | not provided [RCV000750026] | Chr11:45229091..46342834 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.471C>T (p.Asn157=) | single nucleotide variant | not provided [RCV000888137] | Chr11:45254343 [GRCh38] Chr11:45275894 [GRCh37] Chr11:11p11.2 |
benign |
NM_020826.3(SYT13):c.103C>A (p.Pro35Thr) | single nucleotide variant | not specified [RCV004306903] | Chr11:45286105 [GRCh38] Chr11:45307656 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.851C>A (p.Pro284Gln) | single nucleotide variant | not specified [RCV004332927] | Chr11:45246508 [GRCh38] Chr11:45268059 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.786G>A (p.Leu262=) | single nucleotide variant | not provided [RCV000976537] | Chr11:45252481 [GRCh38] Chr11:45274032 [GRCh37] Chr11:11p11.2 |
benign |
Single allele | deletion | Intellectual disability [RCV001293382] | Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
GRCh37/hg19 11p11.2(chr11:44266593-46123796)x4 | copy number gain | not provided [RCV001259092] | Chr11:44266593..46123796 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p11.2(chr11:45287267-45599960)x3 | copy number gain | not provided [RCV001827753] | Chr11:45287267..45599960 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1 | copy number loss | not provided [RCV001836486] | Chr11:40117145..46920718 [GRCh37] Chr11:11p12-11.2 |
pathogenic |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 | copy number gain | MISSED ABORTION [RCV002282973] | Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 | copy number gain | See cases [RCV002286338] | Chr11:51581311..54891247 [GRCh37] Chr11:11p11.2-q12.2 |
pathogenic |
NM_020826.3(SYT13):c.787G>T (p.Asp263Tyr) | single nucleotide variant | not specified [RCV004294776] | Chr11:45252480 [GRCh38] Chr11:45274031 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.527T>C (p.Phe176Ser) | single nucleotide variant | not specified [RCV004332192] | Chr11:45254287 [GRCh38] Chr11:45275838 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.1199C>T (p.Ser400Leu) | single nucleotide variant | not specified [RCV004156890] | Chr11:45244134 [GRCh38] Chr11:45265685 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.101A>C (p.His34Pro) | single nucleotide variant | not specified [RCV004081535] | Chr11:45286107 [GRCh38] Chr11:45307658 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.211G>C (p.Val71Leu) | single nucleotide variant | not specified [RCV004153799] | Chr11:45255864 [GRCh38] Chr11:45277415 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.191T>G (p.Val64Gly) | single nucleotide variant | not specified [RCV004197426] | Chr11:45255884 [GRCh38] Chr11:45277435 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.1193A>T (p.His398Leu) | single nucleotide variant | not specified [RCV004171649] | Chr11:45244140 [GRCh38] Chr11:45265691 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.1077G>C (p.Met359Ile) | single nucleotide variant | not specified [RCV004173152] | Chr11:45244256 [GRCh38] Chr11:45265807 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.169G>C (p.Gly57Arg) | single nucleotide variant | not specified [RCV004182375] | Chr11:45286039 [GRCh38] Chr11:45307590 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_020826.3(SYT13):c.606G>T (p.Arg202Ser) | single nucleotide variant | not specified [RCV004160430] | Chr11:45252661 [GRCh38] Chr11:45274212 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.719C>T (p.Thr240Met) | single nucleotide variant | not specified [RCV004163419] | Chr11:45252548 [GRCh38] Chr11:45274099 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.371G>T (p.Arg124Met) | single nucleotide variant | not specified [RCV004231010] | Chr11:45255704 [GRCh38] Chr11:45277255 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.361C>G (p.Arg121Gly) | single nucleotide variant | not specified [RCV004255643] | Chr11:45255714 [GRCh38] Chr11:45277265 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.427T>A (p.Cys143Ser) | single nucleotide variant | not specified [RCV004361141] | Chr11:45254387 [GRCh38] Chr11:45275938 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.644G>C (p.Arg215Pro) | single nucleotide variant | not specified [RCV004359495] | Chr11:45252623 [GRCh38] Chr11:45274174 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.776G>A (p.Arg259His) | single nucleotide variant | not specified [RCV004465874] | Chr11:45252491 [GRCh38] Chr11:45274042 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.854C>G (p.Ser285Cys) | single nucleotide variant | not specified [RCV004465877] | Chr11:45246505 [GRCh38] Chr11:45268056 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.203C>T (p.Thr68Met) | single nucleotide variant | not specified [RCV004463888] | Chr11:45255872 [GRCh38] Chr11:45277423 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.499G>A (p.Asp167Asn) | single nucleotide variant | not specified [RCV004463890] | Chr11:45254315 [GRCh38] Chr11:45275866 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.269C>T (p.Thr90Met) | single nucleotide variant | not specified [RCV004463889] | Chr11:45255806 [GRCh38] Chr11:45277357 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.800T>C (p.Val267Ala) | single nucleotide variant | not specified [RCV004465875] | Chr11:45252467 [GRCh38] Chr11:45274018 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_020826.3(SYT13):c.814G>T (p.Ala272Ser) | single nucleotide variant | not specified [RCV004465876] | Chr11:45252453 [GRCh38] Chr11:45274004 [GRCh37] Chr11:11p11.2 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
WI-14707 |
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HSC1SF092 |
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D11S3115 |
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RH18313 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 214 | 41 | 307 | 29 | 35 | 28 | 160 | 6 | 1862 | 197 | 112 | 97 | 4 | 1 | ||||
Low | 1214 | 665 | 778 | 231 | 177 | 86 | 323 | 328 | 1073 | 153 | 694 | 851 | 147 | 1 | 24 | 186 | 1 | |
Below cutoff | 959 | 1552 | 563 | 326 | 785 | 315 | 3076 | 1727 | 649 | 39 | 493 | 594 | 19 | 709 | 2173 | 1 |
RefSeq Acc Id: | ENST00000020926 ⟹ ENSP00000020926 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000528101 ⟹ ENSP00000432975 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000533332 ⟹ ENSP00000434967 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001247987 ⟹ NP_001234916 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_020826 ⟹ NP_065877 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047427338 ⟹ XP_047283294 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047427339 ⟹ XP_047283295 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054369488 ⟹ XP_054225463 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054369489 ⟹ XP_054225464 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_065877 ⟸ NM_020826 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9H041 (UniProtKB/Swiss-Prot), Q9BQS3 (UniProtKB/Swiss-Prot), D3DQP1 (UniProtKB/Swiss-Prot), A8K4P4 (UniProtKB/Swiss-Prot), Q9P2C0 (UniProtKB/Swiss-Prot), Q7L8C5 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001234916 ⟸ NM_001247987 |
- Peptide Label: | isoform 2 |
- Sequence: |
RefSeq Acc Id: | ENSP00000434967 ⟸ ENST00000533332 |
RefSeq Acc Id: | ENSP00000020926 ⟸ ENST00000020926 |
RefSeq Acc Id: | ENSP00000432975 ⟸ ENST00000528101 |
RefSeq Acc Id: | XP_047283295 ⟸ XM_047427339 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_047283294 ⟸ XM_047427338 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054225464 ⟸ XM_054369489 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054225463 ⟸ XM_054369488 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q7L8C5-F1-model_v2 | AlphaFold | Q7L8C5 | 1-426 | view protein structure |
RGD ID: | 7220139 | ||||||||
Promoter ID: | EPDNEW_H15815 | ||||||||
Type: | initiation region | ||||||||
Name: | SYT13_1 | ||||||||
Description: | synaptotagmin 13 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:14962 | AgrOrtholog |
COSMIC | SYT13 | COSMIC |
Ensembl Genes | ENSG00000019505 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000020926 | ENTREZGENE |
ENST00000020926.8 | UniProtKB/Swiss-Prot | |
ENST00000528101.1 | UniProtKB/TrEMBL | |
ENST00000533332.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.40.150 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000019505 | GTEx |
HGNC ID | HGNC:14962 | ENTREZGENE |
Human Proteome Map | SYT13 | Human Proteome Map |
InterPro | C2_dom | UniProtKB/Swiss-Prot |
C2_domain_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SYT13 | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:57586 | UniProtKB/Swiss-Prot |
NCBI Gene | 57586 | ENTREZGENE |
OMIM | 607716 | OMIM |
PANTHER | PTHR10024:SF250 | UniProtKB/Swiss-Prot |
SYNAPTOTAGMIN | UniProtKB/Swiss-Prot | |
Pfam | PF00168 | UniProtKB/Swiss-Prot |
PharmGKB | PA37942 | PharmGKB |
PROSITE | PS50004 | UniProtKB/Swiss-Prot |
SMART | SM00239 | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF49562 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A8K4P4 | ENTREZGENE |
D3DQP1 | ENTREZGENE | |
H0YD47_HUMAN | UniProtKB/TrEMBL | |
H0YE47_HUMAN | UniProtKB/TrEMBL | |
Q7L8C5 | ENTREZGENE | |
Q9BQS3 | ENTREZGENE | |
Q9H041 | ENTREZGENE | |
Q9P2C0 | ENTREZGENE | |
SYT13_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | A8K4P4 | UniProtKB/Swiss-Prot |
D3DQP1 | UniProtKB/Swiss-Prot | |
Q9BQS3 | UniProtKB/Swiss-Prot | |
Q9H041 | UniProtKB/Swiss-Prot | |
Q9P2C0 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-11-24 | SYT13 | synaptotagmin 13 | synaptotagmin XIII | Symbol and/or name change | 5135510 | APPROVED |