AutismKB 2.0

Annotation Detail for KCNB1


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Basic Information Top
Gene Symbol:KCNB1 ( DRK1,KV2.1,h-DRK1 )
Gene Full Name: potassium voltage-gated channel, Shab-related subfamily, member 1
Band: 20q13.13
Quick LinksEntrez ID:3745; OMIM: 600397; Uniprot ID:KCNB1_HUMAN; ENSEMBL ID: ENSG00000158445; HGNC ID: 6231
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 body0 / 707610 
blastocyst0 / 623190 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult20 / 193912110
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 tumor1 / 2638453
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal29 / 33603078
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
brain13 / 110098911
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye17 / 21105480
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
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 
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217637_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.55
Adipocyte5.5
AdrenalCortex5.8
Adrenalgland4.7
Amygdala5.9
Appendix6.55
AtrioventricularNode7.95
BDCA4+_DentriticCells5.65
Bonemarrow5.55
BronchialEpithelialCells5.5
CD105+_Endothelial5.4
CD14+_Monocytes5.8
CD19+_BCells(neg._sel.)5.55
CD33+_Myeloid6.9
CD34+6.8
CD4+_Tcells5.95
CD56+_NKCells6.15
CD71+_EarlyErythroid5.2
CD8+_Tcells5
CardiacMyocytes7
Caudatenucleus5.45
Cerebellum4.5
CerebellumPeduncles6.4
CiliaryGanglion4.65
CingulateCortex6.5
Colorectaladenocarcinoma5.6
DorsalRootGanglion5.3
FetalThyroid5.4
Fetalbrain5.45
Fetalliver4.7
Fetallung4.4
GlobusPallidus8.3
Heart7
Hypothalamus6.05
Kidney4.45
Leukemia_chronicMyelogenousK-5625.05
Leukemia_promyelocytic-HL-604.9
Leukemialymphoblastic(MOLT-4)4.4
Liver7.2
Lung6.1
Lymphnode4.85
Lymphoma_burkitts(Daudi)7.05
Lymphoma_burkitts(Raji)7.75
MedullaOblongata6.45
OccipitalLobe6.65
OlfactoryBulb4.4
Ovary4.65
Pancreas4.5
PancreaticIslet5.95
ParietalLobe6.7
Pituitary6.5
Placenta5.7
Pons8.05
PrefrontalCortex7.05
Prostate7
Salivarygland4.55
SkeletalMuscle8.3
Skin7.35
SmoothMuscle6.3
Spinalcord5.95
SubthalamicNucleus6.05
SuperiorCervicalGanglion6.65
TemporalLobe5.7
Testis4.85
TestisGermCell4.6
TestisIntersitial4.7
TestisLeydigCell5.45
TestisSeminiferousTubule4.75
Thalamus5.75
Thymus4.4
Thyroid7.05
Tongue5.45
Tonsil5.4
Trachea4.65
TrigeminalGanglion14.9
Uterus4.55
UterusCorpus14.3
WholeBlood6.05
Wholebrain6.5
colon5.6
pineal_day49.24
pineal_night84.82
retina7.05
small_intestine5.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14062_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
Amygdala5.46 ± 0.66
Basal Forebrain4.83 ± 0.23
Basal Part of Pons4.72 ± 0.82
Cerebellar Cortex4.54 ± 0.39
Cerebellar Nuclei4.11 ± 0.51
Claustrum5.85 ± 0.42
Epithalamus4.63 ± 0.45
Frontal Lobe4.94 ± 0.52
Globus Pallidus3.75 ± 0.88
Hypothalamus4.85 ± 0.36
Insula4.92 ± 0.72
Limbic Lobe5.39 ± 0.58
Mesencephalon5.01 ± 0.69
Myelencephalon4.98 ± 0.64
Occipital Lobe5.79 ± 0.68
Parietal Lobe5.37 ± 0.51
Pontine Tegmentum5.13 ± 0.56
Striatum5.4 ± 0.54
Subthalamus4.35 ± 0.38
Temporal Lobe5.14 ± 0.54
Thalamus4.87 ± 0.57
White Matter3.47 ± 0.66
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kcnb1CBCerebellum18.36
25.2
Kcnb1CTXCerebral cortex100
100
Kcnb1HIPHippocampal region100
100
Kcnb1HPFHippocampal formation100
100
Kcnb1HYHypothalamus39.41
33.87
Kcnb1LSXLateral septal complex52.83
46.21
Kcnb1MBMidbrain40.95
39.94
Kcnb1MYMedulla31.19
36.45
Kcnb1OLFOlfactory bulb100
100
Kcnb1PPons30.51
32.72
Kcnb1PALPallidum34.9
33.78
Kcnb1RHPRetrohippocampal region100
100
Kcnb1sAMYStriatum-like amygdalar nuclei92.28
81.96
Kcnb1STRStriatum100
100
Kcnb1STRdStriatum dorsal region100
100
Kcnb1STRvStriatum ventral region100
100
Kcnb1THThalamus82.9
86.54
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
KCNB1_HUMAN_478 10 478 487 VQDNHLSPNK PRIDE
KCNB1_HUMAN_777 9 777 785 SLPGSTSPK PRIDE
KCNB1_HUMAN_792 16 792 807 SEKNHFESSPLPTSPK PRIDE
KCNB1_HUMAN_795 13 795 807 NHFESSPLPTSPK PRIDE
KCNB1_HUMAN_811 13 811 823 QNCIYSTEALTGK PRIDE
KCNB1_HUMAN_833 10 833 842 LENHISPDVR PRIDE
KCNB1_HUMAN_88 13 88 100 HPGAFTSILNFYR PRIDE

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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