AutismKB 2.0

Annotation Detail for ESYT1


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Basic Information Top
Gene Symbol:ESYT1 ( FAM62A,KIAA0747,MBC2 )
Gene Full Name: extended synaptotagmin-like protein 1
Band: 12q13.2
Quick LinksEntrez ID:23344; OMIM: NA; Uniprot ID:ESYT1_HUMAN; ENSEMBL ID: ENSG00000139641; HGNC ID: 29534
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body16 / 70761226
blastocyst9 / 62319144
fetus47 / 56401283
neonate13 / 31097418
infant0 / 236200 
juvenile16 / 55556287
adult223 / 1939121115
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor20 / 94178212
cervical tumor0 / 343660 
chondrosarcoma11 / 82823132
colorectal tumor19 / 114246166
esophageal tumor1 / 1729057
gastrointestinal tumor14 / 119369117
germ cell tumor56 / 263845212
glioma9 / 10688384
head and neck tumor27 / 136302198
kidney tumor23 / 68959333
leukemia18 / 95842187
liver tumor14 / 96359145
lung tumor9 / 10312787
lymphoma18 / 71755250
non-neoplasia8 / 9725082
normal406 / 3360307120
ovarian tumor11 / 76682143
pancreatic tumor17 / 104616162
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer16 / 102680155
retinoblastoma3 / 4635664
skin tumor9 / 12494972
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue10 / 13106763
adrenal gland2 / 3319760
ascites2 / 4001549
bladder2 / 2975767
blood10 / 12347880
bone8 / 71655111
bone marrow13 / 48801266
brain142 / 1100989128
cervix0 / 481710 
connective tissue12 / 14925580
ear0 / 162120 
embryonic tissue32 / 215722148
esophagus1 / 2020949
eye18 / 21105485
heart19 / 89626211
intestine38 / 234472162
kidney36 / 211777169
larynx4 / 24145165
liver16 / 20774377
lung40 / 336974118
lymph17 / 44270384
lymph node9 / 9161098
mammary gland24 / 153271156
mouth27 / 67052402
muscle18 / 107715167
nerve4 / 15768253
ovary28 / 102051274
pancreas29 / 214812135
parathyroid0 / 205390 
pharynx5 / 41328120
pituitary gland0 / 165850 
placenta23 / 28082581
prostate28 / 189345147
salivary gland1 / 2015549
skin21 / 21057499
spleen13 / 53952240
stomach7 / 9661972
testis66 / 330442199
thymus21 / 81131258
thyroid4 / 4747384
tonsil1 / 1699958
trachea21 / 52413400
umbilical cord22 / 136801608
uterus59 / 232878253
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208858_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts293.2
Adipocyte194.45
AdrenalCortex71.55
Adrenalgland79.2
Amygdala17.1
Appendix16.5
AtrioventricularNode6
BDCA4+_DentriticCells343.25
Bonemarrow41.55
BronchialEpithelialCells248.85
CD105+_Endothelial48.25
CD14+_Monocytes146.55
CD19+_BCells(neg._sel.)279
CD33+_Myeloid140
CD34+311.5
CD4+_Tcells711.2
CD56+_NKCells693.35
CD71+_EarlyErythroid6.15
CD8+_Tcells776.2
CardiacMyocytes125.8
Caudatenucleus14.2
Cerebellum20
CerebellumPeduncles24.3
CiliaryGanglion26.65
CingulateCortex40.3
Colorectaladenocarcinoma240.35
DorsalRootGanglion41
FetalThyroid58.8
Fetalbrain11.9
Fetalliver47.7
Fetallung63.1
GlobusPallidus12.45
Heart75.35
Hypothalamus65.1
Kidney31.9
Leukemia_chronicMyelogenousK-562232.7
Leukemia_promyelocytic-HL-6029.55
Leukemialymphoblastic(MOLT-4)83
Liver170.85
Lung143.6
Lymphnode136.7
Lymphoma_burkitts(Daudi)54.75
Lymphoma_burkitts(Raji)58.5
MedullaOblongata24.15
OccipitalLobe38.85
OlfactoryBulb39.8
Ovary43.85
Pancreas47.65
PancreaticIslet106.45
ParietalLobe37
Pituitary15.15
Placenta105.55
Pons12.05
PrefrontalCortex58.95
Prostate66.15
Salivarygland33.95
SkeletalMuscle11.85
Skin8.7
SmoothMuscle229.45
Spinalcord63.5
SubthalamicNucleus26.15
SuperiorCervicalGanglion6.25
TemporalLobe19.2
Testis34.4
TestisGermCell51.35
TestisIntersitial9.5
TestisLeydigCell10.55
TestisSeminiferousTubule19.3
Thalamus81.6
Thymus164.6
Thyroid97
Tongue39.9
Tonsil72.75
Trachea46.6
TrigeminalGanglion40.15
Uterus73
UterusCorpus10.05
WholeBlood232.05
Wholebrain35.95
colon51.05
pineal_day26.04
pineal_night13.12
retina114.125
small_intestine100.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P150852
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala4.28 ± 0.63
Basal Forebrain4.63 ± 0.42
Basal Part of Pons5.56 ± 0.23
Cerebellar Cortex4.99 ± 0.55
Cerebellar Nuclei5.05 ± 0.43
Claustrum4.5 ± 0.74
Epithalamus5.33 ± 0.91
Frontal Lobe5.07 ± 0.64
Globus Pallidus3.86 ± 0.64
Hypothalamus5.28 ± 0.61
Insula4.77 ± 0.46
Limbic Lobe4.28 ± 0.6
Mesencephalon4.73 ± 0.61
Myelencephalon4.8 ± 0.81
Occipital Lobe4.42 ± 0.74
Parietal Lobe4.98 ± 0.66
Pontine Tegmentum4.71 ± 0.67
Striatum3.59 ± 0.73
Subthalamus5.52 ± 0.25
Temporal Lobe4.82 ± 0.55
Thalamus5.17 ± 0.71
White Matter3.84 ± 0.66
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mbc2CBCerebellum0
0
Mbc2CTXCerebral cortex0
0
Mbc2HIPHippocampal region0
0
Mbc2HPFHippocampal formation0
0
Mbc2HYHypothalamus0
0
Mbc2LSXLateral septal complex0
0
Mbc2MBMidbrain0
0
Mbc2MYMedulla0
0
Mbc2OLFOlfactory bulb0
0
Mbc2PPons0
0
Mbc2PALPallidum0
0
Mbc2RHPRetrohippocampal region0
0
Mbc2sAMYStriatum-like amygdalar nuclei0
0
Mbc2STRStriatum0
0
Mbc2STRdStriatum dorsal region0
0
Mbc2STRvStriatum ventral region0
0
Mbc2THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ESYT1_HUMAN_0 0 0 0 ALTLGALTLPLAR PRIDE
ESYT1_HUMAN_0 0 0 0 ELPAWVSFPDVEKAEWLNK PRIDE
ESYT1_HUMAN_0 0 0 0 HLSPYATLTVGDSSHK PRIDE
ESYT1_HUMAN_0 0 0 0 KPHTESLELQVR PRIDE
ESYT1_HUMAN_0 0 0 0 LLAETVAPAVR PRIDE
ESYT1_HUMAN_0 0 0 0 LLVPLVPDLQDVAQLR PRIDE
ESYT1_HUMAN_0 0 0 0 LTHVDSPLEAPAGPLGQVK PRIDE
ESYT1_HUMAN_0 0 0 0 TLYMSHR PRIDE
ESYT1_HUMAN_1031 22 1031 1052 TLSPEFNERFEWELPLDEAQRR PRIDE
ESYT1_HUMAN_106 12 106 117 QLLDDEEQLTAK PRIDE
ESYT1_HUMAN_125 19 125 143 ELPAWVSFPDVEKAEWLNK PRIDE
ESYT1_HUMAN_159 11 159 169 LLAETVAPAVR PRIDE
ESYT1_HUMAN_183 9 183 191 VELGEKPLR PRIDE
ESYT1_HUMAN_235 9 235 243 GMQLHGVLR PRIDE
ESYT1_HUMAN_307 16 307 322 LLVPLVPDLQDVAQLR PRIDE
ESYT1_HUMAN_355 8 355 362 SDPYALVR PRIDE
ESYT1_HUMAN_422 23 422 444 VLQASVLDDWFPLQGGQGQVHLR PRIDE
ESYT1_HUMAN_530 16 530 545 FFLQDPQSQELDVQVK PRIDE
ESYT1_HUMAN_550 13 550 562 ALTLGALTLPLAR PRIDE
ESYT1_HUMAN_563 23 563 585 LLTAPELILDQWFQLSSSGPNSR PRIDE
ESYT1_HUMAN_650 12 650 661 IHVLEAQDLIAK PRIDE
ESYT1_HUMAN_688 11 688 698 SHVVREDLNPR PRIDE
ESYT1_HUMAN_767 24 767 790 LTPRPTAAELEEVLQVNSLIQTQK PRIDE
ESYT1_HUMAN_791 15 791 805 SAELAAALLSIYMER PRIDE
ESYT1_HUMAN_791 22 791 812 SAELAAALLSIYMERAEDLPLR PRIDE
ESYT1_HUMAN_817 16 817 832 HLSPYATLTVGDSSHK PRIDE
ESYT1_HUMAN_854 12 854 865 KPHTESLELQVR PRIDE
ESYT1_HUMAN_957 19 957 975 LTHVDSPLEAPAGPLGQVK PRIDE
ESYT1_HUMAN_976 10 976 985 LTLWYYSEER PRIDE
PAp00003118 26 625 650 GSSVDAPPRPCHTTPDSQFGTEHVLR Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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