AutismKB 2.0

Annotation Detail for KIF5A


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Basic Information Top
Gene Symbol:KIF5A ( D12S1889,MY050,NKHC,SPG10 )
Gene Full Name: kinesin family member 5A
Band: 12q13.3
Quick LinksEntrez ID:3798; OMIM: 602821; Uniprot ID:KIF5A_HUMAN; ENSEMBL ID: ENSG00000155980; HGNC ID: 6323
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 
blastocyst1 / 6231916
fetus28 / 56401249
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult83 / 193912142
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
glioma5 / 10688346
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia11 / 97250113
normal224 / 336030766
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 marrow2 / 4880140
brain272 / 1100989247
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye18 / 21105485
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx2 / 2414582
liver0 / 2077430 
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve2 / 15768126
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
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: 205318_at
Cell line Expression level Expression bar
721_B_lymphoblasts3.25
Adipocyte2.5
AdrenalCortex2.55
Adrenalgland2.15
Amygdala2.9
Appendix2.55
AtrioventricularNode1.85
BDCA4+_DentriticCells2.9
Bonemarrow2.45
BronchialEpithelialCells2.5
CD105+_Endothelial2.6
CD14+_Monocytes2.7
CD19+_BCells(neg._sel.)2.75
CD33+_Myeloid3.3
CD34+3.3
CD4+_Tcells2.8
CD56+_NKCells3.1
CD71+_EarlyErythroid2.35
CD8+_Tcells2.5
CardiacMyocytes3.1
Caudatenucleus2.3
Cerebellum2.35
CerebellumPeduncles2.9
CiliaryGanglion1.7
CingulateCortex4.6
Colorectaladenocarcinoma2.55
DorsalRootGanglion1.9
FetalThyroid2.45
Fetalbrain2.55
Fetalliver2.2
Fetallung2.15
GlobusPallidus2.15
Heart3.15
Hypothalamus2.95
Kidney2
Leukemia_chronicMyelogenousK-5622.3
Leukemia_promyelocytic-HL-602.25
Leukemialymphoblastic(MOLT-4)2.1
Liver3.3
Lung2.8
Lymphnode2.25
Lymphoma_burkitts(Daudi)3.2
Lymphoma_burkitts(Raji)3.5
MedullaOblongata6.25
OccipitalLobe2.3
OlfactoryBulb2
Ovary1.7
Pancreas2
PancreaticIslet2.7
ParietalLobe3
Pituitary2.95
Placenta2.65
Pons2.5
PrefrontalCortex8.15
Prostate3.05
Salivarygland2
SkeletalMuscle2.8
Skin1.9
SmoothMuscle2.9
Spinalcord3.05
SubthalamicNucleus2.3
SuperiorCervicalGanglion2.8
TemporalLobe4.45
Testis2.2
TestisGermCell2.15
TestisIntersitial2.15
TestisLeydigCell2.5
TestisSeminiferousTubule2.15
Thalamus2.55
Thymus2.05
Thyroid3.25
Tongue2.45
Tonsil2.5
Trachea2.15
TrigeminalGanglion2.45
Uterus2.1
UterusCorpus2.25
WholeBlood2.85
Wholebrain10.6
colon2.6
pineal_day3.28
pineal_night3.1
retina3.1
small_intestine2.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14287_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
Amygdala8.33 ± 0.49
Basal Forebrain7.91 ± 0.36
Basal Part of Pons8.79 ± 0.27
Cerebellar Cortex7.57 ± 0.16
Cerebellar Nuclei7.94 ± 0.5
Claustrum7.63 ± 0.71
Epithalamus6.89 ± 0.5
Frontal Lobe7.97 ± 0.47
Globus Pallidus7.74 ± 0.77
Hypothalamus7.84 ± 0.44
Insula8.06 ± 0.45
Limbic Lobe8.04 ± 0.61
Mesencephalon7.77 ± 0.49
Myelencephalon7.94 ± 0.63
Occipital Lobe8.47 ± 0.34
Parietal Lobe8.4 ± 0.53
Pontine Tegmentum7.88 ± 0.47
Striatum7.44 ± 0.75
Subthalamus7.81 ± 0.31
Temporal Lobe8.25 ± 0.41
Thalamus7.86 ± 0.37
White Matter6.37 ± 0.53
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
KIF5A_HUMAN_0 0 0 0 TGAEGAVLDEAK PRIDE
PAp00069855 13 192 204 HVAVTNMNEHSSR 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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