AutismKB 2.0

Annotation Detail for KCNV1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KCNV1 ( HNKA,KCNB3,KV2.3,KV8.1 )
Gene Full Name: potassium channel, subfamily V, member 1
Band: 8q23.2
Quick LinksEntrez ID:27012; OMIM: 608164; Uniprot ID:KCNV1_HUMAN; ENSEMBL ID: ENSG00000164794; HGNC ID: 18861
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
blastocyst0 / 623190 
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult1 / 19391210 
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal39 / 336030711
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain36 / 110098932
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220294_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.35
Adipocyte7.75
AdrenalCortex11.95
Adrenalgland7.55
Amygdala17.3
Appendix10.85
AtrioventricularNode11.3
BDCA4+_DentriticCells7.5
Bonemarrow9.5
BronchialEpithelialCells7.4
CD105+_Endothelial7.85
CD14+_Monocytes9.3
CD19+_BCells(neg._sel.)8.1
CD33+_Myeloid9.5
CD34+9.15
CD4+_Tcells7.85
CD56+_NKCells9
CD71+_EarlyErythroid7.9
CD8+_Tcells6.85
CardiacMyocytes16.4
Caudatenucleus7.3
Cerebellum6.75
CerebellumPeduncles10.35
CiliaryGanglion8.4
CingulateCortex13.25
Colorectaladenocarcinoma8.05
DorsalRootGanglion8.25
FetalThyroid8.5
Fetalbrain8.7
Fetalliver7.45
Fetallung5.8
GlobusPallidus6.9
Heart15.25
Hypothalamus8.1
Kidney8
Leukemia_chronicMyelogenousK-5627.2
Leukemia_promyelocytic-HL-607.1
Leukemialymphoblastic(MOLT-4)5.95
Liver14.05
Lung8.85
Lymphnode6.25
Lymphoma_burkitts(Daudi)10.95
Lymphoma_burkitts(Raji)13.5
MedullaOblongata9.1
OccipitalLobe20.05
OlfactoryBulb6.15
Ovary6.35
Pancreas7.1
PancreaticIslet8.85
ParietalLobe10.3
Pituitary9.4
Placenta7.65
Pons8.5
PrefrontalCortex13.35
Prostate9
Salivarygland7.05
SkeletalMuscle13.9
Skin8.4
SmoothMuscle9
Spinalcord8.5
SubthalamicNucleus9.05
SuperiorCervicalGanglion16.2
TemporalLobe12.3
Testis6.95
TestisGermCell6.15
TestisIntersitial7
TestisLeydigCell8.95
TestisSeminiferousTubule6.95
Thalamus8.65
Thymus5.85
Thyroid9.1
Tongue10.25
Tonsil8.15
Trachea6.55
TrigeminalGanglion12.05
Uterus6.15
UterusCorpus8.8
WholeBlood8.45
Wholebrain20.6
colon7.9
pineal_day9.7
pineal_night9.52
retina9.675
small_intestine7.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_2098_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
Amygdala6.42 ± 0.86
Basal Forebrain4.66 ± 0.68
Basal Part of Pons5.78 ± 1
Cerebellar Cortex4.49 ± 0.55
Cerebellar Nuclei4.54 ± 0.51
Claustrum7.23 ± 0.65
Epithalamus4.43 ± 1.16
Frontal Lobe6.03 ± 1.01
Globus Pallidus3.11 ± 2.01
Hypothalamus4.64 ± 0.77
Insula6.14 ± 0.38
Limbic Lobe6.04 ± 0.87
Mesencephalon5.26 ± 0.98
Myelencephalon5.47 ± 0.96
Occipital Lobe5.05 ± 1.15
Parietal Lobe5.79 ± 0.87
Pontine Tegmentum5.32 ± 0.95
Striatum4.62 ± 1.74
Subthalamus4.9 ± 0.84
Temporal Lobe6.01 ± 0.82
Thalamus4.6 ± 0.97
White Matter3.35 ± 1.33
Mouse Brain ISH
Peptide Top

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