SYT1 (synaptotagmin 1) - Rat Genome Database
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Gene: SYT1 (synaptotagmin 1) Homo sapiens
Analyze
Symbol: SYT1
Name: synaptotagmin 1
RGD ID: 736944
HGNC Page HGNC
Description: Exhibits low-density lipoprotein particle receptor binding activity. Involved in positive regulation of dendrite extension. Localizes to cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: BAGOS; DKFZp781D2042; P65; SVP65; synaptotagmin I; synaptotagmin-1; SYT; sytI
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1278,863,993 - 79,452,008 (+)EnsemblGRCh38hg38GRCh38
GRCh381278,863,982 - 79,452,008 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371279,257,773 - 79,845,788 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361278,135,414 - 78,368,974 (+)NCBINCBI36hg18NCBI36
Build 341278,113,750 - 78,347,311NCBI
Celera1278,924,230 - 79,512,467 (+)NCBI
Cytogenetic Map12q21.2NCBI
HuRef1276,312,006 - 76,901,927 (+)NCBIHuRef
CHM1_11279,224,059 - 79,812,179 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal location of the eyebrow  (IAGP)
Absent speech  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Ataxia  (IAGP)
Athetoid cerebral palsy  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral talipes equinovarus  (IAGP)
Brachyturricephaly  (IAGP)
Central apnea  (IAGP)
Choreoathetosis  (IAGP)
Delayed ability to walk  (IAGP)
Delayed myelination  (IAGP)
Dermoid cyst  (IAGP)
Dyskinesia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
EEG with focal sharp waves  (IAGP)
EEG with series of focal spikes  (IAGP)
EEG with spike-wave complexes  (IAGP)
Epicanthus  (IAGP)
Equinus calcaneus  (IAGP)
Esotropia  (IAGP)
Feeding difficulties  (IAGP)
Gastroesophageal reflux  (IAGP)
Global developmental delay  (IAGP)
Hemiballismus  (IAGP)
High forehead  (IAGP)
Horizontal eyebrow  (IAGP)
Hyperkinetic movements  (IAGP)
Hypermetropia  (IAGP)
Hyperventilation  (IAGP)
Inability to walk  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Joint laxity  (IAGP)
Laryngomalacia  (IAGP)
Lumbar hyperlordosis  (IAGP)
Motor delay  (IAGP)
Neonatal hypotonia  (IAGP)
Nystagmus  (IAGP)
Pes valgus  (IAGP)
Poor eye contact  (IAGP)
Poor speech  (IAGP)
Poor visual behavior for age  (IAGP)
Progressive flexion contractures  (IAGP)
Prominent nasal tip  (IAGP)
Repetitive compulsive behavior  (IAGP)
Scoliosis  (IAGP)
Self-biting  (IAGP)
Self-injurious behavior  (IAGP)
Self-mutilation  (IAGP)
Severe global developmental delay  (IAGP)
Short nose  (IAGP)
Sleep apnea  (IAGP)
Smooth philtrum  (IAGP)
Stereotypy  (IAGP)
Strabismus  (IAGP)
Thin upper lip vermilion  (IAGP)
Visual impairment  (IAGP)
Vomiting  (IAGP)
Widow's peak  (IAGP)
References

Additional References at PubMed
PMID:1326322   PMID:1840599   PMID:2446925   PMID:7553862   PMID:7624059   PMID:7798952   PMID:8071310   PMID:8087843   PMID:8769138   PMID:8889548   PMID:8901523   PMID:8999968  
PMID:9010211   PMID:9303303   PMID:9712836   PMID:10397765   PMID:10692432   PMID:10734137   PMID:11181737   PMID:11242035   PMID:11243866   PMID:11381094   PMID:11432880   PMID:11438518  
PMID:11438520   PMID:11438523   PMID:11454741   PMID:12062043   PMID:12089155   PMID:12135982   PMID:12477932   PMID:12526776   PMID:12750892   PMID:14702039   PMID:14709554   PMID:15082773  
PMID:15466855   PMID:15467731   PMID:15489334   PMID:15603740   PMID:15919756   PMID:16143103   PMID:16169070   PMID:16344560   PMID:16525042   PMID:17307723   PMID:17956130   PMID:18779938  
PMID:18937294   PMID:19186144   PMID:19234085   PMID:19234194   PMID:19284995   PMID:19523119   PMID:19557857   PMID:19835837   PMID:19926819   PMID:19953087   PMID:20098747   PMID:20195357  
PMID:20222955   PMID:20379614   PMID:21873635   PMID:22360420   PMID:22475172   PMID:22705946   PMID:22740627   PMID:22853901   PMID:22890573   PMID:22966849   PMID:23071627   PMID:23251661  
PMID:23341457   PMID:23607712   PMID:23932591   PMID:23999003   PMID:24302762   PMID:24327345   PMID:24505276   PMID:25233429   PMID:25705886   PMID:25921289   PMID:26186194   PMID:26202220  
PMID:27036734   PMID:27065097   PMID:27126659   PMID:27434670   PMID:27621063   PMID:27716408   PMID:27997124   PMID:28130000   PMID:28193235   PMID:28298427   PMID:28461697   PMID:28514442  
PMID:28696301   PMID:28850328   PMID:29019108   PMID:29046455   PMID:29500903   PMID:29791485   PMID:29997244   PMID:30004579   PMID:30615859   PMID:30795874   PMID:31053155   PMID:31059723  
PMID:31562556   PMID:32296183   PMID:32362337  


Genomics

Comparative Map Data
SYT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1278,863,993 - 79,452,008 (+)EnsemblGRCh38hg38GRCh38
GRCh381278,863,982 - 79,452,008 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371279,257,773 - 79,845,788 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361278,135,414 - 78,368,974 (+)NCBINCBI36hg18NCBI36
Build 341278,113,750 - 78,347,311NCBI
Celera1278,924,230 - 79,512,467 (+)NCBI
Cytogenetic Map12q21.2NCBI
HuRef1276,312,006 - 76,901,927 (+)NCBIHuRef
CHM1_11279,224,059 - 79,812,179 (+)NCBICHM1_1
Syt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910108,333,511 - 108,846,852 (-)NCBIGRCm39mm39
GRCm3810108,497,650 - 109,010,980 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10108,497,650 - 109,010,982 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710107,935,305 - 108,447,675 (-)NCBIGRCm37mm9NCBIm37
MGSCv3610107,902,359 - 108,414,729 (-)NCBImm8
Celera10110,439,113 - 110,956,164 (-)NCBICelera
Cytogenetic Map10D1NCBI
cM Map1056.52NCBI
Syt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0750,084,063 - 50,638,996 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl750,084,060 - 50,638,798 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0750,097,034 - 50,289,950 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4747,243,375 - 47,795,496 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1747,261,066 - 47,815,950 (-)NCBI
Celera740,680,324 - 41,216,966 (-)NCBICelera
Cytogenetic Map7q21NCBI
RH 3.4 Map7348.01RGD
Syt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540517,839,884 - 18,372,566 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540517,840,012 - 18,372,156 (+)NCBIChiLan1.0ChiLan1.0
SYT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11279,240,646 - 79,829,923 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1279,595,704 - 79,829,923 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01276,392,955 - 76,981,800 (+)NCBIMhudiblu_PPA_v0panPan3
SYT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1521,834,763 - 22,042,732 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11521,629,061 - 22,042,734 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Syt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493669865,210 - 575,538 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SYT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl5101,871,312 - 102,020,847 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.15101,871,313 - 102,394,310 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25106,815,507 - 107,335,980 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SYT1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11174,442,890 - 75,032,756 (+)NCBI
ChlSab1.1 Ensembl1174,795,207 - 75,032,915 (+)Ensembl
Syt1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475018,774,670 - 19,313,932 (-)NCBI

Position Markers
D12S64  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,482,499 - 79,482,612UniSTSGRCh37
Celera1279,149,068 - 79,149,183UniSTS
Cytogenetic Map12cen-q21UniSTS
HuRef1276,538,647 - 76,538,762UniSTS
Marshfield Genetic Map1289.42RGD
Marshfield Genetic Map1289.42UniSTS
SHGC-30056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,845,627 - 79,845,731UniSTSGRCh37
Build 361278,369,758 - 78,369,862RGDNCBI36
Celera1279,512,306 - 79,512,410RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,901,766 - 76,901,870UniSTS
TNG Radiation Hybrid Map1239353.0UniSTS
Stanford-G3 RH Map123182.0UniSTS
GeneMap99-G3 RH Map123128.0UniSTS
SHGC-59569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,707,113 - 79,707,304UniSTSGRCh37
GRCh37457,801,739 - 57,801,930UniSTSGRCh37
Build 36457,496,496 - 57,496,687RGDNCBI36
Celera455,307,679 - 55,307,870RGD
Celera1279,373,779 - 79,373,970UniSTS
Cytogenetic Map12cen-q21UniSTS
Cytogenetic Map4q12UniSTS
HuRef1276,763,288 - 76,763,479UniSTS
HuRef453,755,264 - 53,755,455UniSTS
TNG Radiation Hybrid Map431404.0UniSTS
GeneMap99-GB4 RH Map4353.05UniSTS
RH17699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,844,378 - 79,844,584UniSTSGRCh37
Build 361278,368,509 - 78,368,715RGDNCBI36
Celera1279,511,057 - 79,511,263RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,900,517 - 76,900,723UniSTS
GeneMap99-GB4 RH Map12319.69UniSTS
NCBI RH Map12558.7UniSTS
RH47944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,483,006 - 79,483,174UniSTSGRCh37
Build 361278,007,137 - 78,007,305RGDNCBI36
Celera1279,149,577 - 79,149,745RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,539,156 - 76,539,324UniSTS
GeneMap99-GB4 RH Map12319.69UniSTS
NCBI RH Map12558.7UniSTS
WI-22639  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,844,636 - 79,844,902UniSTSGRCh37
Build 361278,368,767 - 78,369,033RGDNCBI36
Celera1279,511,315 - 79,511,581RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,900,775 - 76,901,041UniSTS
GeneMap99-GB4 RH Map12320.07UniSTS
Whitehead-RH Map12421.0UniSTS
NCBI RH Map12558.7UniSTS
G31550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,793,256 - 79,793,359UniSTSGRCh37
Build 361278,317,387 - 78,317,490RGDNCBI36
Celera1279,459,927 - 79,460,030RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,849,397 - 76,849,500UniSTS
D12S1421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,843,476 - 79,843,790UniSTSGRCh37
Build 361278,367,607 - 78,367,921RGDNCBI36
Celera1279,510,155 - 79,510,469RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,899,617 - 76,899,929UniSTS
TNG Radiation Hybrid Map1239350.0UniSTS
Stanford-G3 RH Map123175.0UniSTS
GeneMap99-GB4 RH Map12319.69UniSTS
Whitehead-RH Map12421.0UniSTS
NCBI RH Map12558.7UniSTS
GeneMap99-G3 RH Map123121.0UniSTS
WI-17968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,367,504 - 79,367,628UniSTSGRCh37
Build 361277,891,635 - 77,891,759RGDNCBI36
Celera1279,034,076 - 79,034,200RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,423,747 - 76,423,871UniSTS
GeneMap99-GB4 RH Map12319.69UniSTS
Whitehead-RH Map12420.9UniSTS
NCBI RH Map12558.7UniSTS
SHGC-85231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,557,830 - 79,558,153UniSTSGRCh37
Build 361278,081,961 - 78,082,284RGDNCBI36
Celera1279,224,398 - 79,224,721RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,614,037 - 76,614,360UniSTS
TNG Radiation Hybrid Map1239444.0UniSTS
SHGC-84114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,830,647 - 79,830,972UniSTSGRCh37
Build 361278,354,778 - 78,355,103RGDNCBI36
Celera1279,497,317 - 79,497,642RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,886,789 - 76,887,114UniSTS
TNG Radiation Hybrid Map1239356.0UniSTS
SHGC-84895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,331,653 - 79,331,925UniSTSGRCh37
Build 361277,855,784 - 77,856,056RGDNCBI36
Celera1278,998,225 - 78,998,497RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,386,223 - 76,386,495UniSTS
TNG Radiation Hybrid Map1239574.0UniSTS
D37792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,843,087 - 79,843,246UniSTSGRCh37
Build 361278,367,218 - 78,367,377RGDNCBI36
Celera1279,509,766 - 79,509,925RGD
HuRef1276,899,228 - 76,899,387UniSTS
GDB:384848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,843,476 - 79,843,570UniSTSGRCh37
Build 361278,367,607 - 78,367,701RGDNCBI36
Celera1279,510,155 - 79,510,249RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,899,617 - 76,899,711UniSTS
SHGC-110880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,328,809 - 79,329,139UniSTSGRCh37
Build 361277,852,940 - 77,853,270RGDNCBI36
Celera1278,995,381 - 78,995,711RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,383,378 - 76,383,708UniSTS
TNG Radiation Hybrid Map1239566.0UniSTS
SHGC-111536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,393,680 - 79,393,970UniSTSGRCh37
Build 361277,917,811 - 77,918,101RGDNCBI36
Celera1279,060,252 - 79,060,542RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,449,916 - 76,450,206UniSTS
TNG Radiation Hybrid Map1239525.0UniSTS
SHGC-111560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,547,959 - 79,548,303UniSTSGRCh37
Build 361278,072,090 - 78,072,434RGDNCBI36
Celera1279,214,527 - 79,214,871RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,604,166 - 76,604,510UniSTS
TNG Radiation Hybrid Map1239462.0UniSTS
D12S1846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,460,157 - 79,460,370UniSTSGRCh37
Build 361277,984,288 - 77,984,501RGDNCBI36
Celera1279,126,726 - 79,126,939RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,516,305 - 76,516,518UniSTS
SHGC-155197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,737,315 - 79,737,626UniSTSGRCh37
Build 361278,261,446 - 78,261,757RGDNCBI36
Celera1279,403,981 - 79,404,292RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,793,489 - 76,793,800UniSTS
TNG Radiation Hybrid Map1239389.0UniSTS
G65584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,288,191 - 79,288,361UniSTSGRCh37
Build 361277,812,322 - 77,812,492RGDNCBI36
Celera1278,954,759 - 78,954,929RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,342,756 - 76,342,926UniSTS
SYT1_862  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,843,132 - 79,843,989UniSTSGRCh37
Build 361278,367,263 - 78,368,120RGDNCBI36
Celera1279,509,811 - 79,510,668RGD
HuRef1276,899,273 - 76,900,128UniSTS
G09678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,618,341 - 79,618,602UniSTSGRCh37
Build 361278,142,472 - 78,142,733RGDNCBI36
Celera1279,285,062 - 79,285,301RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,674,671 - 76,674,910UniSTS
RH47304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,844,883 - 79,845,036UniSTSGRCh37
Build 361278,369,014 - 78,369,167RGDNCBI36
Celera1279,511,562 - 79,511,715RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,901,022 - 76,901,175UniSTS
GeneMap99-GB4 RH Map12319.69UniSTS
STS-AA040166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,843,952 - 79,844,067UniSTSGRCh37
Build 361278,368,083 - 78,368,198RGDNCBI36
Celera1279,510,631 - 79,510,746RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,900,091 - 76,900,206UniSTS
GeneMap99-GB4 RH Map12319.69UniSTS
SHGC-31415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,804,125 - 79,804,274UniSTSGRCh37
Build 361278,328,256 - 78,328,405RGDNCBI36
Celera1279,470,796 - 79,470,945RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,860,266 - 76,860,415UniSTS
TNG Radiation Hybrid Map1239333.0UniSTS
GeneMap99-G3 RH Map123121.0UniSTS
RH44236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,323,033 - 79,323,139UniSTSGRCh37
Build 361277,847,164 - 77,847,270RGDNCBI36
Celera1278,989,605 - 78,989,711RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,377,605 - 76,377,711UniSTS
GeneMap99-GB4 RH Map12349.94UniSTS
NCBI RH Map12555.2UniSTS
D12S2204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,843,547 - 79,843,772UniSTSGRCh37
Build 361278,367,678 - 78,367,903RGDNCBI36
Celera1279,510,226 - 79,510,451RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,899,688 - 76,899,911UniSTS
A002S37  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,845,530 - 79,845,654UniSTSGRCh37
Build 361278,369,661 - 78,369,785RGDNCBI36
Celera1279,512,209 - 79,512,333RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,901,669 - 76,901,793UniSTS
GeneMap99-GB4 RH Map12349.76UniSTS
NCBI RH Map12555.5UniSTS
RH78549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,845,450 - 79,845,612UniSTSGRCh37
Build 361278,369,581 - 78,369,743RGDNCBI36
Celera1279,512,129 - 79,512,291RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,901,589 - 76,901,751UniSTS
GeneMap99-GB4 RH Map12349.94UniSTS
NCBI RH Map12555.2UniSTS
SHGC-31058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,288,150 - 79,288,299UniSTSGRCh37
Build 361277,812,281 - 77,812,430RGDNCBI36
Celera1278,954,718 - 78,954,867RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,342,715 - 76,342,864UniSTS
GeneMap99-GB4 RH Map12319.9UniSTS
Whitehead-RH Map12420.9UniSTS
GeneMap99-G3 RH Map123124.0UniSTS
D12F314S2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371279,825,199 - 79,825,441UniSTSGRCh37
Build 361278,349,330 - 78,349,572RGDNCBI36
Celera1279,491,869 - 79,492,111RGD
Cytogenetic Map12cen-q21UniSTS
HuRef1276,881,341 - 76,881,583UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR34Ahsa-miR-34a-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI22160687

Predicted Target Of
Summary Value
Count of predictions:4232
Count of miRNA genes:981
Interacting mature miRNAs:1201
Transcripts:ENST00000261205, ENST00000393240, ENST00000446242, ENST00000457153, ENST00000547046, ENST00000549454, ENST00000549559, ENST00000549671, ENST00000551304, ENST00000552074, ENST00000552624, ENST00000552744
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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
High
Medium 121 106 11 34 11 197 45 2423 27 186 131 1 5 1
Low 1899 908 887 219 464 199 1726 868 1264 175 1042 1008 30 1 765 1188 3
Below cutoff 383 1996 700 373 942 234 2406 1243 41 179 210 451 140 438 1584

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001135805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC027288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC058917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM668697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM671335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS667539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA174824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA206209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ448032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261205   ⟹   ENSP00000261205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1278,864,774 - 79,452,008 (+)Ensembl
RefSeq Acc Id: ENST00000393240   ⟹   ENSP00000376932
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1278,863,993 - 79,450,279 (+)Ensembl
RefSeq Acc Id: ENST00000446242   ⟹   ENSP00000401559
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1279,046,318 - 79,296,139 (+)Ensembl
RefSeq Acc Id: ENST00000457153   ⟹   ENSP00000391056
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1278,864,812 - 79,452,008 (+)Ensembl
RefSeq Acc Id: ENST00000547046   ⟹   ENSP00000448964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1278,964,035 - 79,285,794 (+)Ensembl
RefSeq Acc Id: ENST00000549454
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1278,868,772 - 79,217,517 (+)Ensembl
RefSeq Acc Id: ENST00000549559
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1279,291,799 - 79,353,542 (+)Ensembl
RefSeq Acc Id: ENST00000549671   ⟹   ENSP00000450321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1278,977,522 - 79,285,837 (+)Ensembl
RefSeq Acc Id: ENST00000551304   ⟹   ENSP00000447656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1278,977,785 - 79,285,838 (+)Ensembl
RefSeq Acc Id: ENST00000552074   ⟹   ENSP00000447035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1278,868,710 - 79,285,904 (+)Ensembl
RefSeq Acc Id: ENST00000552624   ⟹   ENSP00000448861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1279,045,705 - 79,296,124 (+)Ensembl
RefSeq Acc Id: ENST00000552744   ⟹   ENSP00000447575
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1279,045,631 - 79,450,294 (+)Ensembl
RefSeq Acc Id: NM_001135805   ⟹   NP_001129277
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381278,863,982 - 79,452,008 (+)NCBI
GRCh371279,257,773 - 79,845,788 (+)ENTREZGENE
HuRef1276,312,006 - 76,901,927 (+)ENTREZGENE
CHM1_11279,224,059 - 79,812,179 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001135806   ⟹   NP_001129278
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381279,045,692 - 79,452,008 (+)NCBI
GRCh371279,257,773 - 79,845,788 (+)ENTREZGENE
HuRef1276,312,006 - 76,901,927 (+)ENTREZGENE
CHM1_11279,405,792 - 79,812,179 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291901   ⟹   NP_001278830
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381278,864,774 - 79,452,008 (+)NCBI
CHM1_11279,224,734 - 79,812,179 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005639   ⟹   NP_005630
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381278,864,774 - 79,452,008 (+)NCBI
GRCh371279,257,773 - 79,845,788 (+)ENTREZGENE
Build 361278,135,414 - 78,368,974 (+)NCBI Archive
HuRef1276,312,006 - 76,901,927 (+)ENTREZGENE
CHM1_11279,224,734 - 79,812,179 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005269113   ⟹   XP_005269170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381278,864,719 - 79,452,008 (+)NCBI
GRCh371279,257,773 - 79,845,788 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719576   ⟹   XP_006719639
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381279,045,631 - 79,452,008 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538710   ⟹   XP_011537012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381278,864,719 - 79,452,008 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001129277   ⟸   NM_001135805
- Peptide Label: isoform 1
- UniProtKB: P21579 (UniProtKB/Swiss-Prot),   A0A024RBE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005630   ⟸   NM_005639
- Peptide Label: isoform 1
- UniProtKB: P21579 (UniProtKB/Swiss-Prot),   A0A024RBE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129278   ⟸   NM_001135806
- Peptide Label: isoform 1
- UniProtKB: P21579 (UniProtKB/Swiss-Prot),   A0A024RBE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269170   ⟸   XM_005269113
- Peptide Label: isoform X2
- UniProtKB: J3KQA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006719639   ⟸   XM_006719576
- Peptide Label: isoform X2
- UniProtKB: J3KQA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278830   ⟸   NM_001291901
- Peptide Label: isoform 2
- UniProtKB: J3KQA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011537012   ⟸   XM_011538710
- Peptide Label: isoform X1
- UniProtKB: P21579 (UniProtKB/Swiss-Prot),   A0A024RBE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000448964   ⟸   ENST00000547046
RefSeq Acc Id: ENSP00000450321   ⟸   ENST00000549671
RefSeq Acc Id: ENSP00000391056   ⟸   ENST00000457153
RefSeq Acc Id: ENSP00000401559   ⟸   ENST00000446242
RefSeq Acc Id: ENSP00000261205   ⟸   ENST00000261205
RefSeq Acc Id: ENSP00000376932   ⟸   ENST00000393240
RefSeq Acc Id: ENSP00000447656   ⟸   ENST00000551304
RefSeq Acc Id: ENSP00000447035   ⟸   ENST00000552074
RefSeq Acc Id: ENSP00000447575   ⟸   ENST00000552744
RefSeq Acc Id: ENSP00000448861   ⟸   ENST00000552624
Protein Domains
C2

Promoters
RGD ID:7224885
Promoter ID:EPDNEW_H18188
Type:single initiation site
Name:SYT1_2
Description:synaptotagmin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18189  EPDNEW_H18190  EPDNEW_H18191  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381278,863,724 - 78,863,784EPDNEW
RGD ID:7224887
Promoter ID:EPDNEW_H18189
Type:initiation region
Name:SYT1_4
Description:synaptotagmin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18188  EPDNEW_H18190  EPDNEW_H18191  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381278,863,993 - 78,864,053EPDNEW
RGD ID:7224889
Promoter ID:EPDNEW_H18190
Type:initiation region
Name:SYT1_1
Description:synaptotagmin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18188  EPDNEW_H18189  EPDNEW_H18191  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381278,864,756 - 78,864,816EPDNEW
RGD ID:7224891
Promoter ID:EPDNEW_H18191
Type:initiation region
Name:SYT1_3
Description:synaptotagmin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18188  EPDNEW_H18189  EPDNEW_H18190  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381279,045,695 - 79,045,755EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1 copy number loss See cases [RCV000050867] Chr12:75683698..80195649 [GRCh38]
Chr12:76077478..80589429 [GRCh37]
Chr12:74363745..79113560 [NCBI36]
Chr12:12q21.2-21.31
pathogenic
GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1 copy number loss See cases [RCV000051313] Chr12:70337484..81761145 [GRCh38]
Chr12:70731264..82154924 [GRCh37]
Chr12:69017531..80679055 [NCBI36]
Chr12:12q15-21.31
pathogenic
GRCh38/hg38 12q15-21.2(chr12:70390897-79214318)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051314]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051314]|See cases [RCV000051314] Chr12:70390897..79214318 [GRCh38]
Chr12:70784677..79608098 [GRCh37]
Chr12:69070944..78132229 [NCBI36]
Chr12:12q15-21.2
pathogenic
GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3 copy number gain See cases [RCV000053684] Chr12:77564757..85370822 [GRCh38]
Chr12:77958537..85764600 [GRCh37]
Chr12:76482668..84288731 [NCBI36]
Chr12:12q21.2-21.31
pathogenic
NM_001135805.1(SYT1):c.294G>A (p.Gly98=) single nucleotide variant Malignant melanoma [RCV000070226] Chr12:79285914 [GRCh38]
Chr12:79679694 [GRCh37]
Chr12:78203825 [NCBI36]
Chr12:12q21.2
not provided
NM_001135805.1(SYT1):c.283G>A (p.Glu95Lys) single nucleotide variant Malignant melanoma [RCV000062610] Chr12:79285903 [GRCh38]
Chr12:79679683 [GRCh37]
Chr12:78203814 [NCBI36]
Chr12:12q21.2
not provided
NM_001135805.1(SYT1):c.-217+25909G>T single nucleotide variant Lung cancer [RCV000111336] Chr12:78891018 [GRCh38]
Chr12:79284798 [GRCh37]
Chr12:12q21.2
uncertain significance
NM_001135805.1(SYT1):c.-216-27352G>A single nucleotide variant Lung cancer [RCV000111337] Chr12:78950447 [GRCh38]
Chr12:79344227 [GRCh37]
Chr12:12q21.2
uncertain significance
NM_001135805.1(SYT1):c.-18+43692A>T single nucleotide variant Lung cancer [RCV000111338] Chr12:79091054 [GRCh38]
Chr12:79484834 [GRCh37]
Chr12:12q21.2
uncertain significance
NM_001135805.1(SYT1):c.929-21475G>T single nucleotide variant Lung cancer [RCV000111340] Chr12:79422598 [GRCh38]
Chr12:79816378 [GRCh37]
Chr12:12q21.2
uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1 copy number loss See cases [RCV000141023] Chr12:76566873..82021089 [GRCh38]
Chr12:76960653..82414868 [GRCh37]
Chr12:75484784..80938999 [NCBI36]
Chr12:12q21.2-21.31
likely pathogenic
GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1 copy number loss See cases [RCV000143099] Chr12:73485697..92795805 [GRCh38]
Chr12:73879477..93189581 [GRCh37]
Chr12:72165744..91713712 [NCBI36]
Chr12:12q21.1-22
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_005639.3(SYT1):c.1090G>A (p.Asp364Asn) single nucleotide variant Inborn genetic diseases [RCV000623042] Chr12:79448945 [GRCh38]
Chr12:79842725 [GRCh37]
Chr12:12q21.2
likely pathogenic
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) single nucleotide variant Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome [RCV000735268]|SYT1-associated neurodevelopmental disorder [RCV000721124]|not provided [RCV000497062] Chr12:79448958 [GRCh38]
Chr12:79842738 [GRCh37]
Chr12:12q21.2
pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_005639.3(SYT1):c.908T>A (p.Met303Lys) single nucleotide variant Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome [RCV000735271]|SYT1-associated neurodevelopmental disorder [RCV000721122] Chr12:79353599 [GRCh38]
Chr12:79747379 [GRCh37]
Chr12:12q21.2
pathogenic|likely pathogenic
NM_005639.3(SYT1):c.911A>G (p.Asp304Gly) single nucleotide variant Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome [RCV000735272]|SYT1-associated neurodevelopmental disorder [RCV000721123] Chr12:79353602 [GRCh38]
Chr12:79747382 [GRCh37]
Chr12:12q21.2
pathogenic|likely pathogenic
NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu) single nucleotide variant Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome [RCV000735269]|SYT1-associated neurodevelopmental disorder [RCV000721125] Chr12:79448953 [GRCh38]
Chr12:79842733 [GRCh37]
Chr12:12q21.2
pathogenic|likely pathogenic
NM_005639.3(SYT1):c.1113C>G (p.Asn371Lys) single nucleotide variant Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome [RCV000735270]|SYT1-associated neurodevelopmental disorder [RCV000721126] Chr12:79448968 [GRCh38]
Chr12:79842748 [GRCh37]
Chr12:12q21.2
pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1 copy number loss not provided [RCV000737927] Chr12:69608090..89629345 [GRCh37]
Chr12:12q15-21.33
pathogenic
NM_005639.3(SYT1):c.1127_1128dup (p.Val377fs) duplication not provided [RCV000782060] Chr12:79448980..79448981 [GRCh38]
Chr12:79842760..79842761 [GRCh37]
Chr12:12q21.2
uncertain significance
NM_005639.3(SYT1):c.378T>C (p.Thr126=) single nucleotide variant not provided [RCV000973498] Chr12:79292034 [GRCh38]
Chr12:79685814 [GRCh37]
Chr12:12q21.2
benign
NM_005639.3(SYT1):c.1113C>T (p.Asn371=) single nucleotide variant not provided [RCV000895610] Chr12:79448968 [GRCh38]
Chr12:79842748 [GRCh37]
Chr12:12q21.2
likely benign
NM_005639.3(SYT1):c.1257C>T (p.Ala419=) single nucleotide variant not provided [RCV000941509] Chr12:79449112 [GRCh38]
Chr12:79842892 [GRCh37]
Chr12:12q21.2
likely benign
GRCh37/hg19 12q21.2(chr12:79732756-80116407)x1 copy number loss not provided [RCV000847833] Chr12:79732756..80116407 [GRCh37]
Chr12:12q21.2
uncertain significance
GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1 copy number loss not provided [RCV000848027] Chr12:77737623..94330526 [GRCh37]
Chr12:12q21.2-22
pathogenic
NM_005639.3(SYT1):c.1158G>A (p.Ala386=) single nucleotide variant not provided [RCV000959325] Chr12:79449013 [GRCh38]
Chr12:79842793 [GRCh37]
Chr12:12q21.2
benign
NM_005639.3(SYT1):c.1100_1102dup (p.Lys367dup) duplication Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome [RCV001027965] Chr12:79448953..79448954 [GRCh38]
Chr12:79842733..79842734 [GRCh37]
Chr12:12q21.2
likely pathogenic
GRCh37/hg19 12q21.2(chr12:79367903-79786505)x1 copy number loss not provided [RCV000847265] Chr12:79367903..79786505 [GRCh37]
Chr12:12q21.2
uncertain significance
GRCh37/hg19 12q21.2-21.31(chr12:79302790-82128250)x1 copy number loss not provided [RCV001006516] Chr12:79302790..82128250 [GRCh37]
Chr12:12q21.2-21.31
uncertain significance
GRCh37/hg19 12q21.2(chr12:79373265-79512503)x1 copy number loss not provided [RCV001006517] Chr12:79373265..79512503 [GRCh37]
Chr12:12q21.2
uncertain significance
NM_005639.3(SYT1):c.1098C>G (p.Asp366Glu) single nucleotide variant Syndromic intellectual disability [RCV001254686] Chr12:79448953 [GRCh38]
Chr12:79842733 [GRCh37]
Chr12:12q21.2
pathogenic
NM_005639.3(SYT1):c.224G>T (p.Cys75Phe) single nucleotide variant SYT1-associated neurodevelopmental disorder [RCV001270794] Chr12:79285844 [GRCh38]
Chr12:79679624 [GRCh37]
Chr12:12q21.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11509 AgrOrtholog
COSMIC SYT1 COSMIC
Ensembl Genes ENSG00000067715 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261205 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376932 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391056 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000401559 UniProtKB/TrEMBL
  ENSP00000447035 UniProtKB/TrEMBL
  ENSP00000447575 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000447656 UniProtKB/TrEMBL
  ENSP00000448861 UniProtKB/TrEMBL
  ENSP00000448964 UniProtKB/TrEMBL
  ENSP00000450321 UniProtKB/TrEMBL
Ensembl Transcript ENST00000261205 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393240 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000446242 UniProtKB/TrEMBL
  ENST00000457153 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000547046 UniProtKB/TrEMBL
  ENST00000549671 UniProtKB/TrEMBL
  ENST00000551304 UniProtKB/TrEMBL
  ENST00000552074 UniProtKB/TrEMBL
  ENST00000552624 UniProtKB/TrEMBL
  ENST00000552744 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000067715 GTEx
HGNC ID HGNC:11509 ENTREZGENE
Human Proteome Map SYT1 Human Proteome Map
InterPro C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptotagmin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptotagmin1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6857 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6857 ENTREZGENE
OMIM 185605 OMIM
  618218 OMIM
PANTHER PTHR10024:SF239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36290 PharmGKB
PRINTS C2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SYNAPTOTAGMN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RBE9 ENTREZGENE, UniProtKB/TrEMBL
  C9JX50_HUMAN UniProtKB/TrEMBL
  F8VXH0_HUMAN UniProtKB/TrEMBL
  F8VYH8_HUMAN UniProtKB/TrEMBL
  F8VZY3_HUMAN UniProtKB/TrEMBL
  F8W1U9_HUMAN UniProtKB/TrEMBL
  J3KQA0 ENTREZGENE, UniProtKB/TrEMBL
  P21579 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0A088AWM9 UniProtKB/TrEMBL
  A0A0E3D6M2 UniProtKB/TrEMBL
  A0A0U1RVJ0 UniProtKB/TrEMBL
  F8VP93 UniProtKB/TrEMBL
  Q6AI31 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 SYT1  synaptotagmin 1    synaptotagmin I  Symbol and/or name change 5135510 APPROVED