AutismKB 2.0

Annotation Detail for COCH


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Basic Information Top
Gene Symbol:COCH ( COCH-5B2,COCH5B2,DFNA9 )
Gene Full Name: coagulation factor C homolog, cochlin (Limulus polyphemus)
Band: 14q12
Quick LinksEntrez ID:1690; OMIM: 603196; Uniprot ID:COCH_HUMAN; ENSEMBL ID: ENSG00000100473; HGNC ID: 2180
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 body1 / 7076114
blastocyst3 / 6231948
fetus181 / 564012320
neonate0 / 310970 
infant0 / 236200 
juvenile10 / 55556179
adult34 / 193912117
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor4 / 9635941
lung tumor11 / 103127106
lymphoma9 / 71755125
non-neoplasia1 / 9725010
normal279 / 336030783
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS19 / 125680151
prostate cancer4 / 10268038
retinoblastoma6 / 46356129
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone2 / 7165527
bone marrow0 / 488010 
brain47 / 110098942
cervix0 / 481710 
connective tissue2 / 14925513
ear171 / 1621210547
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye11 / 21105452
heart0 / 896260 
intestine3 / 23447212
kidney5 / 21177723
larynx1 / 2414541
liver6 / 20774328
lung17 / 33697450
lymph0 / 442700 
lymph node2 / 9161021
mammary gland1 / 1532716
mouth3 / 6705244
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta5 / 28082517
prostate5 / 18934526
salivary gland0 / 201550 
skin1 / 2105744
spleen1 / 5395218
stomach3 / 9661931
testis7 / 33044221
thymus1 / 8113112
thyroid0 / 474730 
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205229_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts45.15
Adipocyte5.85
AdrenalCortex6.55
Adrenalgland5.2
Amygdala8.35
Appendix6.35
AtrioventricularNode5.2
BDCA4+_DentriticCells7.5
Bonemarrow5.95
BronchialEpithelialCells5.75
CD105+_Endothelial11.55
CD14+_Monocytes6.3
CD19+_BCells(neg._sel.)15.25
CD33+_Myeloid7.45
CD34+127.7
CD4+_Tcells6.1
CD56+_NKCells6.7
CD71+_EarlyErythroid5.55
CD8+_Tcells5.5
CardiacMyocytes8.2
Caudatenucleus535.25
Cerebellum4.85
CerebellumPeduncles7
CiliaryGanglion4.7
CingulateCortex6.2
Colorectaladenocarcinoma5.95
DorsalRootGanglion5.05
FetalThyroid5.85
Fetalbrain11.15
Fetalliver5.2
Fetallung4.8
GlobusPallidus4.45
Heart8.1
Hypothalamus11
Kidney5.1
Leukemia_chronicMyelogenousK-562177.25
Leukemia_promyelocytic-HL-605.25
Leukemialymphoblastic(MOLT-4)4.8
Liver8.05
Lung6.55
Lymphnode5.35
Lymphoma_burkitts(Daudi)7.7
Lymphoma_burkitts(Raji)8.5
MedullaOblongata22.75
OccipitalLobe5.4
OlfactoryBulb4.7
Ovary4.3
Pancreas5.05
PancreaticIslet7.7
ParietalLobe6.35
Pituitary18.25
Placenta6
Pons9.05
PrefrontalCortex7.2
Prostate7.55
Salivarygland4.95
SkeletalMuscle7.35
Skin5.15
SmoothMuscle6.75
Spinalcord6.65
SubthalamicNucleus5.55
SuperiorCervicalGanglion7.15
TemporalLobe5.45
Testis5.15
TestisGermCell4.9
TestisIntersitial5.05
TestisLeydigCell6.05
TestisSeminiferousTubule5.1
Thalamus25.5
Thymus4.65
Thyroid7.2
Tongue6.1
Tonsil5.95
Trachea4.95
TrigeminalGanglion6.55
Uterus4.8
UterusCorpus5.4
WholeBlood6.45
Wholebrain5.15
colon5.95
pineal_day7.22
pineal_night7.32
retina7.25
small_intestine5.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12_PI416408490
  • 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
Amygdala3.11 ± 1.16
Basal Forebrain3.59 ± 1.11
Basal Part of Pons3.17 ± 1.07
Cerebellar Cortex2.27 ± 0.4
Cerebellar Nuclei2.89 ± 0.76
Claustrum3.25 ± 0.64
Epithalamus3.01 ± 1.06
Frontal Lobe2.8 ± 0.95
Globus Pallidus2.59 ± 0.66
Hypothalamus3.53 ± 1.5
Insula3.12 ± 1
Limbic Lobe2.77 ± 0.82
Mesencephalon3.3 ± 1.12
Myelencephalon3.02 ± 0.91
Occipital Lobe2.49 ± 0.9
Parietal Lobe2.6 ± 0.95
Pontine Tegmentum2.91 ± 1.15
Striatum6.06 ± 0.91
Subthalamus3.04 ± 0.97
Temporal Lobe2.98 ± 0.9
Thalamus3.06 ± 0.83
White Matter2.16 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
CochCBCerebellum7.88
11.97
CochCTXCerebral cortex52.08
46.96
CochHIPHippocampal region2.93
5.84
CochHPFHippocampal formation4.75
6.89
CochHYHypothalamus8.69
9.5
CochLSXLateral septal complex8.78
7.55
CochMBMidbrain9.26
11.81
CochMYMedulla7.03
12.66
CochOLFOlfactory bulb26.62
34.03
CochPPons3.89
5.5
CochPALPallidum8.59
9.82
CochRHPRetrohippocampal region7.25
7.99
CochsAMYStriatum-like amygdalar nuclei7.87
9.26
CochSTRStriatum74.44
79.29
CochSTRdStriatum dorsal region100
100
CochSTRvStriatum ventral region6.13
4.48
CochTHThalamus27.54
36.66
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00377570 35 46 80 ADVLCPGGCPLEEFSVYGNIVYASVSSICGAAVHR 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