AutismKB 2.0

Annotation Detail for ISOC1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ISOC1 ( - )
Gene Full Name: isochorismatase domain containing 1
Band: 5q23.3
Quick LinksEntrez ID:51015; OMIM: NA; Uniprot ID:ISOC1_HUMAN; ENSEMBL ID: ENSG00000066583; HGNC ID: 24254
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 body3 / 7076142
blastocyst2 / 6231932
fetus20 / 56401235
neonate2 / 3109764
infant0 / 236200 
juvenile9 / 55556161
adult75 / 193912138
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor6 / 9417863
cervical tumor8 / 34366232
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor2 / 17290115
gastrointestinal tumor10 / 11936983
germ cell tumor11 / 26384541
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor4 / 9635941
lung tumor2 / 10312719
lymphoma4 / 7175555
non-neoplasia0 / 972500 
normal129 / 336030738
ovarian tumor0 / 766820 
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS15 / 125680119
prostate cancer7 / 10268068
retinoblastoma9 / 46356194
skin tumor3 / 12494924
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites2 / 4001549
bladder6 / 29757201
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain33 / 110098929
cervix12 / 48171249
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus2 / 2020998
eye13 / 21105461
heart11 / 89626122
intestine10 / 23447242
kidney16 / 21177775
larynx0 / 241450 
liver6 / 20774328
lung12 / 33697435
lymph0 / 442700 
lymph node3 / 9161032
mammary gland9 / 15327158
mouth0 / 670520 
muscle2 / 10771518
nerve1 / 1576863
ovary1 / 1020519
pancreas19 / 21481288
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta14 / 28082549
prostate10 / 18934552
salivary gland2 / 2015599
skin9 / 21057442
spleen0 / 539520 
stomach9 / 9661993
testis7 / 33044221
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord2 / 13680146
uterus11 / 23287847
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218170_at
Cell line Expression level Expression bar
721_B_lymphoblasts143.4
Adipocyte18.6
AdrenalCortex21.1
Adrenalgland55.55
Amygdala56.5
Appendix20
AtrioventricularNode15.05
BDCA4+_DentriticCells30.25
Bonemarrow22.2
BronchialEpithelialCells19.7
CD105+_Endothelial142.75
CD14+_Monocytes21.7
CD19+_BCells(neg._sel.)24.25
CD33+_Myeloid25.2
CD34+123.95
CD4+_Tcells19.4
CD56+_NKCells49.4
CD71+_EarlyErythroid22.8
CD8+_Tcells19.4
CardiacMyocytes27.5
Caudatenucleus16.6
Cerebellum13.9
CerebellumPeduncles23.35
CiliaryGanglion14.45
CingulateCortex20
Colorectaladenocarcinoma37.6
DorsalRootGanglion16.3
FetalThyroid17.95
Fetalbrain21.55
Fetalliver121.9
Fetallung28.75
GlobusPallidus14.5
Heart93.2
Hypothalamus50.2
Kidney67.55
Leukemia_chronicMyelogenousK-56233.15
Leukemia_promyelocytic-HL-6059.85
Leukemialymphoblastic(MOLT-4)20.1
Liver109.5
Lung57.1
Lymphnode19.4
Lymphoma_burkitts(Daudi)29.15
Lymphoma_burkitts(Raji)42.5
MedullaOblongata16.55
OccipitalLobe15.75
OlfactoryBulb17
Ovary30.2
Pancreas16.1
PancreaticIslet54.8
ParietalLobe16.35
Pituitary78.25
Placenta27.8
Pons19.9
PrefrontalCortex24
Prostate110.3
Salivarygland50.45
SkeletalMuscle25.4
Skin18.4
SmoothMuscle50.9
Spinalcord25.05
SubthalamicNucleus17.5
SuperiorCervicalGanglion25.7
TemporalLobe16.5
Testis28.7
TestisGermCell15.05
TestisIntersitial15.25
TestisLeydigCell20.4
TestisSeminiferousTubule14.7
Thalamus20.05
Thymus27.6
Thyroid71.5
Tongue19.7
Tonsil17.8
Trachea62.95
TrigeminalGanglion22.25
Uterus309.45
UterusCorpus21.5
WholeBlood20.45
Wholebrain47.9
colon178.7
pineal_day975.36
pineal_night987.48
retina44.85
small_intestine324.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9799_PI416261804
  • 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
Amygdala5.66 ± 0.38
Basal Forebrain6.48 ± 0.17
Basal Part of Pons4.68 ± 0.47
Cerebellar Cortex4.98 ± 0.43
Cerebellar Nuclei5.82 ± 0.57
Claustrum5.66 ± 0.5
Epithalamus6.06 ± 0.39
Frontal Lobe5.49 ± 0.68
Globus Pallidus6.95 ± 0.28
Hypothalamus6.61 ± 0.52
Insula5.72 ± 0.24
Limbic Lobe5.39 ± 0.69
Mesencephalon6.02 ± 0.67
Myelencephalon5.66 ± 0.6
Occipital Lobe5.19 ± 0.65
Parietal Lobe5.56 ± 0.47
Pontine Tegmentum6.09 ± 0.57
Striatum6.41 ± 0.43
Subthalamus6.17 ± 0.73
Temporal Lobe5.75 ± 0.53
Thalamus5.72 ± 0.42
White Matter7.31 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Isoc1CBCerebellum5.82
7.36
Isoc1CTXCerebral cortex4.73
3.97
Isoc1HIPHippocampal region9.75
10.87
Isoc1HPFHippocampal formation7.93
7.66
Isoc1HYHypothalamus12.25
10.57
Isoc1LSXLateral septal complex20.88
18.82
Isoc1MBMidbrain20.3
20.51
Isoc1MYMedulla25.79
36.72
Isoc1OLFOlfactory bulb26.49
35.73
Isoc1PPons21.72
25.18
Isoc1PALPallidum44.48
62.08
Isoc1RHPRetrohippocampal region6.32
4.59
Isoc1sAMYStriatum-like amygdalar nuclei20.81
20.17
Isoc1STRStriatum11.55
10.8
Isoc1STRdStriatum dorsal region6.74
6.02
Isoc1STRvStriatum ventral region19.46
18
Isoc1THThalamus9.03
8.39
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ISOC1_HUMAN_0 0 0 0 GVEVHIVADATSSR PRIDE
ISOC1_HUMAN_0 0 0 0 ILGIPVIVTEQYPK PRIDE
ISOC1_HUMAN_0 0 0 0 TKFSMVLPEVEAALAEIPGVR PRIDE
ISOC1_HUMAN_131 11 131 141 YFGDIISVGQR PRIDE
ISOC1_HUMAN_148 14 148 161 ILGIPVIVTEQYPK PRIDE
ISOC1_HUMAN_182 21 182 202 TKFSMVLPEVEAALAEIPGVR PRIDE
ISOC1_HUMAN_184 19 184 202 FSMVLPEVEAALAEIPGVR PRIDE
ISOC1_HUMAN_254 23 254 276 TGIIVTTSEAVLLQLVADKDHPK PRIDE
PAp00003921 14 149 162 ILGIPVIVTEQYPK 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved