AutismKB 2.0

Annotation Detail for ANKS1A


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Basic Information Top
Gene Symbol:ANKS1A ( ANKS1,KIAA0229,MGC42354 )
Gene Full Name: ankyrin repeat and sterile alpha motif domain containing 1A
Band: 6p21.31
Quick LinksEntrez ID:23294; OMIM: 608994; Uniprot ID:ANS1A_HUMAN; ENSEMBL ID: ENSG00000064999; HGNC ID: 20961
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 body4 / 7076156
blastocyst1 / 6231916
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult95 / 193912148
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor21 / 26384579
glioma7 / 10688365
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal131 / 336030738
ovarian tumor5 / 7668265
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma4 / 4635686
skin tumor22 / 124949176
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
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 
blood2 / 12347816
bone2 / 7165527
bone marrow2 / 4880140
brain51 / 110098946
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye10 / 21105447
heart0 / 896260 
intestine7 / 23447229
kidney5 / 21177723
larynx0 / 241450 
liver4 / 20774319
lung6 / 33697417
lymph0 / 442700 
lymph node2 / 9161021
mammary gland6 / 15327139
mouth0 / 670520 
muscle2 / 10771518
nerve2 / 15768126
ovary5 / 10205148
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta15 / 28082553
prostate10 / 18934552
salivary gland0 / 201550 
skin22 / 210574104
spleen7 / 53952129
stomach3 / 9661931
testis9 / 33044227
thymus3 / 8113136
thyroid3 / 4747363
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: 212747_at
Cell line Expression level Expression bar
721_B_lymphoblasts29.1
Adipocyte13.75
AdrenalCortex21.45
Adrenalgland60.9
Amygdala85.35
Appendix32.7
AtrioventricularNode24.75
BDCA4+_DentriticCells39.55
Bonemarrow28.6
BronchialEpithelialCells32.5
CD105+_Endothelial27.55
CD14+_Monocytes35.55
CD19+_BCells(neg._sel.)26
CD33+_Myeloid99.7
CD34+42.5
CD4+_Tcells18.7
CD56+_NKCells31.55
CD71+_EarlyErythroid10.15
CD8+_Tcells31.75
CardiacMyocytes24.45
Caudatenucleus30.95
Cerebellum58.25
CerebellumPeduncles53.5
CiliaryGanglion22.6
CingulateCortex28.1
Colorectaladenocarcinoma32.75
DorsalRootGanglion25.4
FetalThyroid30.5
Fetalbrain38.1
Fetalliver19.45
Fetallung45.4
GlobusPallidus18.4
Heart55.6
Hypothalamus67.35
Kidney33.35
Leukemia_chronicMyelogenousK-56223.8
Leukemia_promyelocytic-HL-6020.05
Leukemialymphoblastic(MOLT-4)21.8
Liver44.1
Lung422.6
Lymphnode28.9
Lymphoma_burkitts(Daudi)20.75
Lymphoma_burkitts(Raji)31.6
MedullaOblongata30.7
OccipitalLobe33.55
OlfactoryBulb168.3
Ovary9.6
Pancreas25.05
PancreaticIslet23.95
ParietalLobe21.75
Pituitary28.7
Placenta299.55
Pons17.95
PrefrontalCortex87.15
Prostate84.6
Salivarygland17.9
SkeletalMuscle21.5
Skin21.9
SmoothMuscle26.45
Spinalcord35.45
SubthalamicNucleus21.45
SuperiorCervicalGanglion30
TemporalLobe30.35
Testis100.4
TestisGermCell107.5
TestisIntersitial25.55
TestisLeydigCell22.85
TestisSeminiferousTubule38.1
Thalamus34
Thymus27.7
Thyroid92.45
Tongue19.85
Tonsil21.6
Trachea23.05
TrigeminalGanglion21.8
Uterus56.55
UterusCorpus16.85
WholeBlood36.05
Wholebrain98.1
colon126.5
pineal_day55.22
pineal_night53.7
retina157
small_intestine119.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11216_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
Amygdala4.93 ± 0.63
Basal Forebrain5.26 ± 0.37
Basal Part of Pons4.79 ± 0.41
Cerebellar Cortex5.39 ± 0.41
Cerebellar Nuclei5.1 ± 0.42
Claustrum5.57 ± 0.65
Epithalamus5.38 ± 0.6
Frontal Lobe5.12 ± 0.43
Globus Pallidus5.22 ± 0.32
Hypothalamus4.69 ± 0.33
Insula5.01 ± 0.55
Limbic Lobe5.18 ± 0.56
Mesencephalon5.19 ± 0.52
Myelencephalon5.26 ± 0.52
Occipital Lobe5.72 ± 0.56
Parietal Lobe5.31 ± 0.42
Pontine Tegmentum5.41 ± 0.47
Striatum5.56 ± 0.48
Subthalamus4.78 ± 0.73
Temporal Lobe5.19 ± 0.46
Thalamus5.45 ± 0.43
White Matter5.03 ± 0.61
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Anks1CBCerebellum20.53
20.41
Anks1CTXCerebral cortex9.4
5.83
Anks1HIPHippocampal region7.22
6.44
Anks1HPFHippocampal formation6.19
4.92
Anks1HYHypothalamus4.76
3.2
Anks1LSXLateral septal complex3.5
3.27
Anks1MBMidbrain5.62
4.72
Anks1MYMedulla16.9
15.63
Anks1OLFOlfactory bulb5.45
4.93
Anks1PPons9.56
8.57
Anks1PALPallidum3.35
2.65
Anks1RHPRetrohippocampal region4.66
3.05
Anks1sAMYStriatum-like amygdalar nuclei1.99
1.22
Anks1STRStriatum2.81
2.05
Anks1STRdStriatum dorsal region3.05
2.26
Anks1STRvStriatum ventral region1.26
0.81
Anks1THThalamus5.92
4.7
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ANS1A_HUMAN_1 11 1 11 GKEQELLEAAR PRIDE
ANS1A_HUMAN_2 11 2 12 GKEQELLEAAR PRIDE
PAp00064093 25 540 564 ASMQLEETGVHAPGASQPSALDQSK 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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