ESYT1 (extended synaptotagmin 1) - Rat Genome Database

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Gene: ESYT1 (extended synaptotagmin 1) Homo sapiens
Analyze
Symbol: ESYT1
Name: extended synaptotagmin 1
RGD ID: 733690
HGNC Page HGNC:29534
Description: Enables identical protein binding activity and phospholipid transfer activity. Involved in intermembrane lipid transfer. Located in endoplasmic reticulum membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: extended synaptotagmin like protein 1; extended synaptotagmin protein 1; extended synaptotagmin-1; extended synaptotagmin-like protein 1; FAM62A; family with sequence similarity 62 (C2 domain containing), member A; KIAA0747; MBC2; membrane-bound C2 domain-containing protein
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
GRCh381256,128,267 - 56,144,674 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1256,118,250 - 56,144,674 (+)EnsemblGRCh38hg38GRCh38
GRCh371256,522,051 - 56,538,458 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361254,808,321 - 54,824,722 (+)NCBINCBI36Build 36hg18NCBI36
Celera1256,174,129 - 56,190,606 (+)NCBICelera
Cytogenetic Map12q13.2NCBI
HuRef1253,561,123 - 53,577,517 (+)NCBIHuRef
CHM1_11256,489,351 - 56,505,826 (+)NCBICHM1_1
T2T-CHM13v2.01256,095,865 - 56,112,273 (+)NCBIT2T-CHM13v2.0
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

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:9872452   PMID:10350628   PMID:11972353   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15592455   PMID:16344560   PMID:17110338   PMID:17672888   PMID:19738201  
PMID:19946888   PMID:21319273   PMID:21779181   PMID:21873635   PMID:22119785   PMID:22623428   PMID:22659450   PMID:22810586   PMID:22939629   PMID:23791178   PMID:24147044   PMID:24332808  
PMID:24927568   PMID:25048004   PMID:25468996   PMID:25609649   PMID:25921289   PMID:25922075   PMID:25940091   PMID:25959826   PMID:26186194   PMID:26496610   PMID:26598620   PMID:26618866  
PMID:26638075   PMID:26641092   PMID:27065097   PMID:27173435   PMID:27342126   PMID:28514442   PMID:28561026   PMID:28675297   PMID:28718761   PMID:29154949   PMID:29180619   PMID:29222176  
PMID:29360040   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29564676   PMID:29568061   PMID:30093493   PMID:30194290   PMID:30442662   PMID:30463901   PMID:30575818   PMID:30619736  
PMID:30833792   PMID:30850711   PMID:30948266   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31177093   PMID:31343991   PMID:31527615   PMID:31536960   PMID:31586073   PMID:31732153  
PMID:31871319   PMID:31904842   PMID:31995728   PMID:32129710   PMID:32149426   PMID:32614325   PMID:32687490   PMID:32707033   PMID:32807901   PMID:32877691   PMID:32913203   PMID:33022573  
PMID:33144569   PMID:33239621   PMID:33397691   PMID:33545068   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34226595   PMID:34244565   PMID:34285210   PMID:34316702  
PMID:34432599   PMID:34597346   PMID:34702444   PMID:34709727   PMID:34901782   PMID:34917906   PMID:35007762   PMID:35022314   PMID:35241646   PMID:35271311   PMID:35384245   PMID:35509820  
PMID:35563538   PMID:35696571   PMID:35748872   PMID:35844135   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36217030   PMID:36244648   PMID:36261009   PMID:36424410   PMID:36517590  
PMID:36526897   PMID:36590901   PMID:36610398   PMID:36634849   PMID:36779763   PMID:36821088   PMID:36857408   PMID:36931259   PMID:37232246   PMID:37536630   PMID:37774976   PMID:37827155  
PMID:37931956   PMID:38113892   PMID:38117590  


Genomics

Comparative Map Data
ESYT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381256,128,267 - 56,144,674 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1256,118,250 - 56,144,674 (+)EnsemblGRCh38hg38GRCh38
GRCh371256,522,051 - 56,538,458 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361254,808,321 - 54,824,722 (+)NCBINCBI36Build 36hg18NCBI36
Celera1256,174,129 - 56,190,606 (+)NCBICelera
Cytogenetic Map12q13.2NCBI
HuRef1253,561,123 - 53,577,517 (+)NCBIHuRef
CHM1_11256,489,351 - 56,505,826 (+)NCBICHM1_1
T2T-CHM13v2.01256,095,865 - 56,112,273 (+)NCBIT2T-CHM13v2.0
Esyt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910128,346,117 - 128,361,728 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10128,345,834 - 128,361,740 (-)EnsemblGRCm39 Ensembl
GRCm3810128,510,248 - 128,525,859 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10128,509,965 - 128,525,871 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710127,947,304 - 127,962,915 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3610127,913,197 - 127,928,808 (-)NCBIMGSCv36mm8
Celera10130,902,178 - 130,917,817 (-)NCBICelera
Cytogenetic Map10D3NCBI
cM Map1076.85NCBI
Esyt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr871,513,381 - 1,530,836 (-)NCBIGRCr8
mRatBN7.27928,848 - 946,199 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7928,848 - 946,199 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx73,690,831 - 3,708,186 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.075,566,813 - 5,584,172 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.075,864,442 - 5,881,776 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.072,924,216 - 2,941,213 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl72,924,603 - 2,941,122 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.072,897,632 - 2,914,841 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.471,790,700 - 1,808,060 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.171,791,039 - 1,808,005 (-)NCBI
Celera7802,008 - 819,338 (-)NCBICelera
Cytogenetic Map7q11NCBI
Esyt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554583,733,071 - 3,745,876 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554583,732,968 - 3,746,856 (+)NCBIChiLan1.0ChiLan1.0
ESYT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21038,187,577 - 38,207,061 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11238,184,345 - 38,200,835 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01232,770,870 - 32,787,352 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11233,021,770 - 33,037,988 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1233,021,770 - 33,037,988 (-)Ensemblpanpan1.1panPan2
ESYT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.110448,807 - 462,154 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl10448,881 - 461,332 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha10510,556 - 525,658 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.010455,687 - 470,823 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl10455,519 - 470,822 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.110433,143 - 448,267 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.010676,264 - 691,357 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.010800,278 - 815,384 (+)NCBIUU_Cfam_GSD_1.0
Esyt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494558,318,429 - 58,333,665 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936646538,794 - 552,036 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936646536,561 - 551,806 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ESYT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl521,514,510 - 21,535,929 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1521,517,956 - 21,535,320 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2522,986,045 - 23,003,135 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ESYT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11152,066,624 - 52,085,114 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1152,068,884 - 52,085,726 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037193,899,607 - 193,916,061 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Esyt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462480211,863,094 - 11,877,642 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462480211,863,094 - 11,891,632 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ESYT1
68 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001184796.1(ESYT1):c.2223G>A (p.Leu741=) single nucleotide variant Malignant melanoma [RCV000070110] Chr12:56137909 [GRCh38]
Chr12:56531693 [GRCh37]
Chr12:54817960 [NCBI36]
Chr12:12q13.2
not provided
NM_001184796.1(ESYT1):c.2091C>T (p.Phe697=) single nucleotide variant Malignant melanoma [RCV000062559] Chr12:56137621 [GRCh38]
Chr12:56531405 [GRCh37]
Chr12:54817672 [NCBI36]
Chr12:12q13.2
not provided
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 12q13.13-13.3(chr12:53420606-56202942)x3 copy number gain See cases [RCV000141435] Chr12:53420606..56202942 [GRCh38]
Chr12:53814390..56596726 [GRCh37]
Chr12:52100657..54882993 [NCBI36]
Chr12:12q13.13-13.3
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_015292.3(ESYT1):c.287A>G (p.Asp96Gly) single nucleotide variant Inborn genetic diseases [RCV003269050] Chr12:56128606 [GRCh38]
Chr12:56522390 [GRCh37]
Chr12:12q13.2
uncertain significance
GRCh37/hg19 12q13.2(chr12:55975308-56593032)x3 copy number gain See cases [RCV000446219] Chr12:55975308..56593032 [GRCh37]
Chr12:12q13.2
uncertain significance
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_015292.3(ESYT1):c.671A>C (p.Glu224Ala) single nucleotide variant Inborn genetic diseases [RCV003241642] Chr12:56131273 [GRCh38]
Chr12:56525057 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.377A>G (p.Glu126Gly) single nucleotide variant Inborn genetic diseases [RCV003299645] Chr12:56128696 [GRCh38]
Chr12:56522480 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1981G>A (p.Ala661Thr) single nucleotide variant Inborn genetic diseases [RCV003250010] Chr12:56137541 [GRCh38]
Chr12:56531325 [GRCh37]
Chr12:12q13.2
uncertain significance
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
NM_015292.3(ESYT1):c.2121C>T (p.Ile707=) single nucleotide variant not provided [RCV000965896] Chr12:56137837 [GRCh38]
Chr12:56531621 [GRCh37]
Chr12:12q13.2
benign
NM_015292.3(ESYT1):c.246C>G (p.Leu82=) single nucleotide variant not provided [RCV000881373] Chr12:56128565 [GRCh38]
Chr12:56522349 [GRCh37]
Chr12:12q13.2
benign
NM_015292.3(ESYT1):c.1584G>A (p.Ala528=) single nucleotide variant not provided [RCV000953462] Chr12:56134380 [GRCh38]
Chr12:56528164 [GRCh37]
Chr12:12q13.2
benign
NM_015292.3(ESYT1):c.1821G>T (p.Thr607=) single nucleotide variant not provided [RCV000960381] Chr12:56137256 [GRCh38]
Chr12:56531040 [GRCh37]
Chr12:12q13.2
benign
NM_015292.3(ESYT1):c.1282G>A (p.Val428Ile) single nucleotide variant Inborn genetic diseases [RCV003291944] Chr12:56133454 [GRCh38]
Chr12:56527238 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.83C>G (p.Pro28Arg) single nucleotide variant Inborn genetic diseases [RCV003269884] Chr12:56128402 [GRCh38]
Chr12:56522186 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.618G>T (p.Gln206His) single nucleotide variant Inborn genetic diseases [RCV003247266] Chr12:56131090 [GRCh38]
Chr12:56524874 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.3089A>C (p.Lys1030Thr) single nucleotide variant Inborn genetic diseases [RCV002901278] Chr12:56143118 [GRCh38]
Chr12:56536902 [GRCh37]
Chr12:12q13.2
uncertain significance
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3 copy number gain not provided [RCV001006505] Chr12:55552371..62126304 [GRCh37]
Chr12:12q13.2-14.1
pathogenic
GRCh37/hg19 12q13.2(chr12:56333246-56558418)x3 copy number gain not provided [RCV001259615] Chr12:56333246..56558418 [GRCh37]
Chr12:12q13.2
uncertain significance
NC_000012.11:g.(?_56396006)_(56750355_?)dup duplication Sulfite oxidase deficiency [RCV001913847] Chr12:56396006..56750355 [GRCh37]
Chr12:12q13.2-13.3
uncertain significance
GRCh37/hg19 12q13.2-13.3(chr12:56333262-57010442) copy number gain not specified [RCV002052997] Chr12:56333262..57010442 [GRCh37]
Chr12:12q13.2-13.3
uncertain significance
GRCh37/hg19 12q13.2(chr12:55975308-56593032) copy number gain not specified [RCV002052996] Chr12:55975308..56593032 [GRCh37]
Chr12:12q13.2
uncertain significance
Single allele duplication not specified [RCV002286382] Chr12:55986511..56885590 [GRCh38]
Chr12:12q13.2-13.3
uncertain significance
NM_015292.3(ESYT1):c.2822C>T (p.Ser941Leu) single nucleotide variant Inborn genetic diseases [RCV002687179] Chr12:56142666 [GRCh38]
Chr12:56536450 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.2515C>A (p.Gln839Lys) single nucleotide variant Inborn genetic diseases [RCV002774642] Chr12:56138936 [GRCh38]
Chr12:56532720 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.3209G>A (p.Arg1070His) single nucleotide variant Inborn genetic diseases [RCV002774308] Chr12:56143317 [GRCh38]
Chr12:56537101 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1979T>C (p.Ile660Thr) single nucleotide variant Inborn genetic diseases [RCV002882438] Chr12:56137539 [GRCh38]
Chr12:56531323 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.85G>A (p.Ala29Thr) single nucleotide variant Inborn genetic diseases [RCV002754718] Chr12:56128404 [GRCh38]
Chr12:56522188 [GRCh37]
Chr12:12q13.2
likely benign
NM_015292.3(ESYT1):c.2432C>T (p.Pro811Leu) single nucleotide variant Inborn genetic diseases [RCV002865119] Chr12:56138498 [GRCh38]
Chr12:56532282 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.784A>C (p.Met262Leu) single nucleotide variant Inborn genetic diseases [RCV002779047] Chr12:56131546 [GRCh38]
Chr12:56525330 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1316A>C (p.Gln439Pro) single nucleotide variant Inborn genetic diseases [RCV002727751] Chr12:56133610 [GRCh38]
Chr12:56527394 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.19G>A (p.Glu7Lys) single nucleotide variant Inborn genetic diseases [RCV002977439] Chr12:56128338 [GRCh38]
Chr12:56522122 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1739G>T (p.Ser580Ile) single nucleotide variant Inborn genetic diseases [RCV002757519] Chr12:56136850 [GRCh38]
Chr12:56530634 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1444G>A (p.Val482Ile) single nucleotide variant Inborn genetic diseases [RCV002844832] Chr12:56133844 [GRCh38]
Chr12:56527628 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.752T>C (p.Ile251Thr) single nucleotide variant Inborn genetic diseases [RCV002926075] Chr12:56131514 [GRCh38]
Chr12:56525298 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1601A>C (p.Gln534Pro) single nucleotide variant Inborn genetic diseases [RCV002980279] Chr12:56134397 [GRCh38]
Chr12:56528181 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.82C>T (p.Pro28Ser) single nucleotide variant Inborn genetic diseases [RCV002757827] Chr12:56128401 [GRCh38]
Chr12:56522185 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.371A>G (p.His124Arg) single nucleotide variant Inborn genetic diseases [RCV002884335] Chr12:56128690 [GRCh38]
Chr12:56522474 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.481C>G (p.Leu161Val) single nucleotide variant Inborn genetic diseases [RCV002984283] Chr12:56130839 [GRCh38]
Chr12:56524623 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1058A>G (p.Glu353Gly) single nucleotide variant Inborn genetic diseases [RCV002767591] Chr12:56132494 [GRCh38]
Chr12:56526278 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1500C>A (p.Asn500Lys) single nucleotide variant Inborn genetic diseases [RCV002874000] Chr12:56134136 [GRCh38]
Chr12:56527920 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.574C>T (p.Arg192Cys) single nucleotide variant Inborn genetic diseases [RCV002827663] Chr12:56131046 [GRCh38]
Chr12:56524830 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.362A>G (p.Tyr121Cys) single nucleotide variant Inborn genetic diseases [RCV002875006] Chr12:56128681 [GRCh38]
Chr12:56522465 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.2543G>T (p.Ser848Ile) single nucleotide variant Inborn genetic diseases [RCV002764034] Chr12:56138964 [GRCh38]
Chr12:56532748 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.3059G>A (p.Arg1020Gln) single nucleotide variant Inborn genetic diseases [RCV002961314] Chr12:56143088 [GRCh38]
Chr12:56536872 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.2329T>A (p.Leu777Ile) single nucleotide variant Inborn genetic diseases [RCV002674173] Chr12:56138264 [GRCh38]
Chr12:56532048 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.3244G>C (p.Glu1082Gln) single nucleotide variant Inborn genetic diseases [RCV002668614] Chr12:56143598 [GRCh38]
Chr12:56537382 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.799C>T (p.Arg267Cys) single nucleotide variant Inborn genetic diseases [RCV002809749] Chr12:56131561 [GRCh38]
Chr12:56525345 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1898G>A (p.Arg633Gln) single nucleotide variant Inborn genetic diseases [RCV002964896] Chr12:56137333 [GRCh38]
Chr12:56531117 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1910C>T (p.Thr637Met) single nucleotide variant Inborn genetic diseases [RCV002673186] Chr12:56137345 [GRCh38]
Chr12:56531129 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1474-28G>A single nucleotide variant Inborn genetic diseases [RCV002748569] Chr12:56134082 [GRCh38]
Chr12:56527866 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1016G>A (p.Arg339Gln) single nucleotide variant Inborn genetic diseases [RCV002669097] Chr12:56132452 [GRCh38]
Chr12:56526236 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.2166C>A (p.Asp722Glu) single nucleotide variant Inborn genetic diseases [RCV002809517] Chr12:56137882 [GRCh38]
Chr12:56531666 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.286G>A (p.Asp96Asn) single nucleotide variant Inborn genetic diseases [RCV002675055] Chr12:56128605 [GRCh38]
Chr12:56522389 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.424C>G (p.Leu142Val) single nucleotide variant Inborn genetic diseases [RCV002941128] Chr12:56130615 [GRCh38]
Chr12:56524399 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.2530G>A (p.Val844Ile) single nucleotide variant Inborn genetic diseases [RCV002652841] Chr12:56138951 [GRCh38]
Chr12:56532735 [GRCh37]
Chr12:12q13.2
likely benign
NM_015292.3(ESYT1):c.2805T>A (p.Ser935Arg) single nucleotide variant Inborn genetic diseases [RCV002657073] Chr12:56142649 [GRCh38]
Chr12:56536433 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1588C>T (p.Arg530Trp) single nucleotide variant Inborn genetic diseases [RCV003281134] Chr12:56134384 [GRCh38]
Chr12:56528168 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1174G>A (p.Glu392Lys) single nucleotide variant Inborn genetic diseases [RCV003207415] Chr12:56132731 [GRCh38]
Chr12:56526515 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.298C>G (p.Arg100Gly) single nucleotide variant Inborn genetic diseases [RCV003178664] Chr12:56128617 [GRCh38]
Chr12:56522401 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1457G>A (p.Arg486Gln) single nucleotide variant Inborn genetic diseases [RCV003183335] Chr12:56133857 [GRCh38]
Chr12:56527641 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.2054G>A (p.Arg685Gln) single nucleotide variant Inborn genetic diseases [RCV003282110] Chr12:56137614 [GRCh38]
Chr12:56531398 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.2567C>T (p.Pro856Leu) single nucleotide variant Inborn genetic diseases [RCV003304129] Chr12:56138988 [GRCh38]
Chr12:56532772 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.2908G>A (p.Gly970Arg) single nucleotide variant Inborn genetic diseases [RCV003173785] Chr12:56142854 [GRCh38]
Chr12:56536638 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.2936T>C (p.Leu979Pro) single nucleotide variant Inborn genetic diseases [RCV003208874] Chr12:56142882 [GRCh38]
Chr12:56536666 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1745G>T (p.Gly582Val) single nucleotide variant Inborn genetic diseases [RCV003181338] Chr12:56136856 [GRCh38]
Chr12:56530640 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.803C>T (p.Pro268Leu) single nucleotide variant Inborn genetic diseases [RCV003210286] Chr12:56131565 [GRCh38]
Chr12:56525349 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1756A>G (p.Arg586Gly) single nucleotide variant Inborn genetic diseases [RCV003309908] Chr12:56136867 [GRCh38]
Chr12:56530651 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1300C>T (p.Pro434Ser) single nucleotide variant Inborn genetic diseases [RCV003343278] Chr12:56133594 [GRCh38]
Chr12:56527378 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.3004G>C (p.Gly1002Arg) single nucleotide variant Inborn genetic diseases [RCV003378307] Chr12:56143033 [GRCh38]
Chr12:56536817 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.3013C>T (p.Pro1005Ser) single nucleotide variant Inborn genetic diseases [RCV003378528] Chr12:56143042 [GRCh38]
Chr12:56536826 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.2134C>T (p.Pro712Ser) single nucleotide variant Inborn genetic diseases [RCV003344950] Chr12:56137850 [GRCh38]
Chr12:56531634 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1999G>A (p.Gly667Arg) single nucleotide variant Inborn genetic diseases [RCV003359711] Chr12:56137559 [GRCh38]
Chr12:56531343 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.2996G>A (p.Arg999Gln) single nucleotide variant Inborn genetic diseases [RCV003356112] Chr12:56143025 [GRCh38]
Chr12:56536809 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1363G>T (p.Ala455Ser) single nucleotide variant Inborn genetic diseases [RCV003383936] Chr12:56133657 [GRCh38]
Chr12:56527441 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_015292.3(ESYT1):c.1295G>T (p.Trp432Leu) single nucleotide variant Inborn genetic diseases [RCV003386820] Chr12:56133589 [GRCh38]
Chr12:56527373 [GRCh37]
Chr12:12q13.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2884
Count of miRNA genes:1003
Interacting mature miRNAs:1228
Transcripts:ENST00000267113, ENST00000394048, ENST00000541590, ENST00000547667, ENST00000548142, ENST00000550179, ENST00000550515, ENST00000550878, ENST00000550986, ENST00000551112, ENST00000551790
Prediction methods: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.

Markers in Region
RH44882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371256,538,186 - 56,538,299UniSTSGRCh37
Build 361254,824,453 - 54,824,566RGDNCBI36
Celera1256,190,332 - 56,190,445RGD
Cytogenetic Map12q13.2UniSTS
HuRef1253,577,243 - 53,577,356UniSTS
GeneMap99-GB4 RH Map12245.84UniSTS
NCBI RH Map12455.8UniSTS


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 pharyngeal arch
High
Medium 2429 2735 1714 615 1808 458 4350 2083 2582 405 1453 1607 171 1204 2783 4
Low 10 256 12 9 143 7 7 114 1152 14 7 6 4 1 5 1 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001184796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB018290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC034102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ346011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB100366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ993200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000267113   ⟹   ENSP00000267113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,128,267 - 56,144,041 (+)Ensembl
RefSeq Acc Id: ENST00000394048   ⟹   ENSP00000377612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,128,267 - 56,144,674 (+)Ensembl
RefSeq Acc Id: ENST00000547667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,137,342 - 56,138,435 (+)Ensembl
RefSeq Acc Id: ENST00000548142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,138,930 - 56,143,017 (+)Ensembl
RefSeq Acc Id: ENST00000550179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,130,855 - 56,132,290 (+)Ensembl
RefSeq Acc Id: ENST00000550515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,143,483 - 56,144,391 (+)Ensembl
RefSeq Acc Id: ENST00000550878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,138,026 - 56,142,931 (+)Ensembl
RefSeq Acc Id: ENST00000550986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,130,333 - 56,131,286 (+)Ensembl
RefSeq Acc Id: ENST00000551112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,138,516 - 56,142,421 (+)Ensembl
RefSeq Acc Id: ENST00000551790   ⟹   ENSP00000447756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1256,118,250 - 56,131,099 (+)Ensembl
RefSeq Acc Id: NM_001184796   ⟹   NP_001171725
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,128,267 - 56,144,674 (+)NCBI
GRCh371256,521,985 - 56,547,259 (+)NCBI
Celera1256,174,129 - 56,190,606 (+)RGD
HuRef1253,561,123 - 53,577,517 (+)RGD
CHM1_11256,489,351 - 56,505,826 (+)NCBI
T2T-CHM13v2.01256,095,865 - 56,112,273 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015292   ⟹   NP_056107
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,128,267 - 56,144,674 (+)NCBI
GRCh371256,521,985 - 56,547,259 (+)NCBI
Build 361254,808,321 - 54,824,722 (+)NCBI Archive
Celera1256,174,129 - 56,190,606 (+)RGD
HuRef1253,561,123 - 53,577,517 (+)RGD
CHM1_11256,489,351 - 56,505,826 (+)NCBI
T2T-CHM13v2.01256,095,865 - 56,112,273 (+)NCBI
Sequence:
RefSeq Acc Id: NP_056107   ⟸   NM_015292
- Peptide Label: isoform 2
- UniProtKB: Q9H6W2 (UniProtKB/Swiss-Prot),   Q9H6J1 (UniProtKB/Swiss-Prot),   Q6PJN4 (UniProtKB/Swiss-Prot),   O94848 (UniProtKB/Swiss-Prot),   A8K2S2 (UniProtKB/Swiss-Prot),   A0FGR7 (UniProtKB/Swiss-Prot),   Q9Y416 (UniProtKB/Swiss-Prot),   Q9BSJ8 (UniProtKB/Swiss-Prot),   B3KMV5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171725   ⟸   NM_001184796
- Peptide Label: isoform 1
- UniProtKB: B3KMV5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000267113   ⟸   ENST00000267113
RefSeq Acc Id: ENSP00000377612   ⟸   ENST00000394048
RefSeq Acc Id: ENSP00000447756   ⟸   ENST00000551790
Protein Domains
C2   SMP-LTD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BSJ8-F1-model_v2 AlphaFold Q9BSJ8 1-1104 view protein structure

Promoters
RGD ID:6790031
Promoter ID:HG_KWN:15887
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000394048,   ENST00000402331,   NM_001184796,   NM_015292
Position:
Human AssemblyChrPosition (strand)Source
Build 361254,807,986 - 54,808,486 (+)MPROMDB
RGD ID:7224383
Promoter ID:EPDNEW_H17937
Type:initiation region
Name:ESYT1_1
Description:extended synaptotagmin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,128,267 - 56,128,327EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29534 AgrOrtholog
COSMIC ESYT1 COSMIC
Ensembl Genes ENSG00000139641 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000267113 ENTREZGENE
  ENST00000267113.4 UniProtKB/Swiss-Prot
  ENST00000394048 ENTREZGENE
  ENST00000394048.10 UniProtKB/Swiss-Prot
  ENST00000551790.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000139641 GTEx
HGNC ID HGNC:29534 ENTREZGENE
Human Proteome Map ESYT1 Human Proteome Map
InterPro C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2C_KIAA1228 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ext_Synaptotagmin_C2A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ext_Synaptotagmin_C2B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMP_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptotagmin_SMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23344 UniProtKB/Swiss-Prot
NCBI Gene 23344 ENTREZGENE
OMIM 616670 OMIM
PANTHER EXTENDED SYNAPTOTAGMIN-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EXTENDED SYNAPTOTAGMIN-LIKE PROTEIN 2, ISOFORM C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMP_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165512688 PharmGKB
PRINTS C2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49562 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0FGR7 ENTREZGENE
  A8K2S2 ENTREZGENE
  B3KMV5 ENTREZGENE, UniProtKB/TrEMBL
  ESYT1_HUMAN UniProtKB/Swiss-Prot
  F8VZB1_HUMAN UniProtKB/TrEMBL
  O94848 ENTREZGENE
  Q6PJN4 ENTREZGENE
  Q9BSJ8 ENTREZGENE
  Q9H6J1 ENTREZGENE
  Q9H6W2 ENTREZGENE
  Q9Y416 ENTREZGENE
UniProt Secondary A0FGR7 UniProtKB/Swiss-Prot
  A8K2S2 UniProtKB/Swiss-Prot
  O94848 UniProtKB/Swiss-Prot
  Q6PJN4 UniProtKB/Swiss-Prot
  Q9H6J1 UniProtKB/Swiss-Prot
  Q9H6W2 UniProtKB/Swiss-Prot
  Q9Y416 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 ESYT1  extended synaptotagmin 1    extended synaptotagmin protein 1  Symbol and/or name change 5135510 APPROVED
2016-03-14 ESYT1  extended synaptotagmin protein 1    extended synaptotagmin like protein 1  Symbol and/or name change 5135510 APPROVED
2016-02-02 ESYT1  extended synaptotagmin like protein 1    extended synaptotagmin-like protein 1  Symbol and/or name change 5135510 APPROVED