AutismKB 2.0

Annotation Detail for KIF1A


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Basic Information Top
Gene Symbol:KIF1A ( ATSV,C2orf20,DKFZp686I2094,FLJ30229,HUNC-104,MGC133285,MGC133286,UNC104 )
Gene Full Name: kinesin family member 1A
Band: 2q37.3
Quick LinksEntrez ID:547; OMIM: 601255; Uniprot ID:KIF1A_HUMAN; ENSEMBL ID: ENSG00000130294; HGNC ID: 888
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
blastocyst5 / 6231980
fetus86 / 564012152
neonate0 / 310970 
infant6 / 23620254
juvenile6 / 55556107
adult184 / 193912194
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor26 / 26384598
glioma31 / 106883290
head and neck tumor0 / 1363020 
kidney tumor4 / 6895958
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor21 / 103127203
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal571 / 3360307169
ovarian tumor0 / 766820 
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS19 / 125680151
prostate cancer5 / 10268048
retinoblastoma22 / 46356474
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor6 / 9025766
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 
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain524 / 1100989475
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye74 / 211054350
heart1 / 8962611
intestine16 / 23447268
kidney5 / 21177723
larynx0 / 241450 
liver1 / 2077434
lung23 / 33697468
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth0 / 670520 
muscle7 / 10771564
nerve7 / 15768443
ovary0 / 1020510 
pancreas37 / 214812172
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate8 / 18934542
salivary gland0 / 201550 
skin1 / 2105744
spleen1 / 5395218
stomach0 / 966190 
testis22 / 33044266
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203849_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.25
Adipocyte5.45
AdrenalCortex6.2
Adrenalgland4.7
Amygdala29
Appendix5.75
AtrioventricularNode4.65
BDCA4+_DentriticCells5.55
Bonemarrow5.65
BronchialEpithelialCells5.3
CD105+_Endothelial5.25
CD14+_Monocytes5.75
CD19+_BCells(neg._sel.)5.5
CD33+_Myeloid6.55
CD34+6.45
CD4+_Tcells5.55
CD56+_NKCells6.05
CD71+_EarlyErythroid5.15
CD8+_Tcells5
CardiacMyocytes7.35
Caudatenucleus6.15
Cerebellum6.3
CerebellumPeduncles15.7
CiliaryGanglion6.3
CingulateCortex66.8
Colorectaladenocarcinoma5.7
DorsalRootGanglion6.2
FetalThyroid5.55
Fetalbrain6.6
Fetalliver4.85
Fetallung4.25
GlobusPallidus8.9
Heart7.95
Hypothalamus8.55
Kidney4.55
Leukemia_chronicMyelogenousK-5625.1
Leukemia_promyelocytic-HL-604.85
Leukemialymphoblastic(MOLT-4)4.5
Liver7.55
Lung5.95
Lymphnode4.95
Lymphoma_burkitts(Daudi)7.3
Lymphoma_burkitts(Raji)8
MedullaOblongata10.45
OccipitalLobe10.85
OlfactoryBulb10.05
Ovary3.95
Pancreas4.75
PancreaticIslet6.1
ParietalLobe15.35
Pituitary6.7
Placenta5.4
Pons8.3
PrefrontalCortex8.85
Prostate8.55
Salivarygland4.45
SkeletalMuscle7.3
Skin5.65
SmoothMuscle6
Spinalcord6.45
SubthalamicNucleus13.5
SuperiorCervicalGanglion7.7
TemporalLobe8.1
Testis4.75
TestisGermCell4.75
TestisIntersitial4.8
TestisLeydigCell5.65
TestisSeminiferousTubule4.9
Thalamus5.8
Thymus4.5
Thyroid6.8
Tongue5.65
Tonsil5.55
Trachea4.5
TrigeminalGanglion6.15
Uterus4.6
UterusCorpus6.7
WholeBlood6.1
Wholebrain60.45
colon5.65
pineal_day74.6
pineal_night100.34
retina16.975
small_intestine5.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P395460
  • 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
Amygdala9.21 ± 0.65
Basal Forebrain9.26 ± 0.38
Basal Part of Pons9.81 ± 0.5
Cerebellar Cortex9.54 ± 0.55
Cerebellar Nuclei9.1 ± 0.39
Claustrum8.9 ± 0.61
Epithalamus9 ± 0.65
Frontal Lobe9.64 ± 0.49
Globus Pallidus8.91 ± 0.38
Hypothalamus9.53 ± 0.42
Insula9.72 ± 0.34
Limbic Lobe9.37 ± 0.56
Mesencephalon9.32 ± 0.51
Myelencephalon9.43 ± 0.57
Occipital Lobe9 ± 0.67
Parietal Lobe9.44 ± 0.5
Pontine Tegmentum9.27 ± 0.48
Striatum8.8 ± 0.5
Subthalamus9.29 ± 0.78
Temporal Lobe9.71 ± 0.46
Thalamus9.5 ± 0.43
White Matter9.31 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kif1aCBCerebellum62.31
100
Kif1aCTXCerebral cortex100
100
Kif1aHIPHippocampal region100
100
Kif1aHPFHippocampal formation100
100
Kif1aHYHypothalamus100
100
Kif1aLSXLateral septal complex100
100
Kif1aMBMidbrain100
100
Kif1aMYMedulla100
100
Kif1aOLFOlfactory bulb100
100
Kif1aPPons100
100
Kif1aPALPallidum100
100
Kif1aRHPRetrohippocampal region100
100
Kif1asAMYStriatum-like amygdalar nuclei100
100
Kif1aSTRStriatum100
100
Kif1aSTRdStriatum dorsal region100
100
Kif1aSTRvStriatum ventral region100
100
Kif1aTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00499516 15 981 995 AALDGPLDAALDHLR 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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