AutismKB 2.0

Annotation Detail for ANK1


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Basic Information Top
Gene Symbol:ANK1 ( ANK,SPH1,SPH2 )
Gene Full Name: ankyrin 1, erythrocytic
Band: 8p11.21
Quick LinksEntrez ID:286; OMIM: 612641; Uniprot ID:ANK1_HUMAN; ENSEMBL ID: ENSG00000029534; HGNC ID: 492
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 
fetus32 / 56401256
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult35 / 193912118
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal109 / 336030732
ovarian tumor7 / 7668291
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
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 
blood9 / 12347872
bone2 / 7165527
bone marrow0 / 488010 
brain8 / 11009897
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye7 / 21105433
heart5 / 8962655
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node3 / 9161032
mammary gland1 / 1532716
mouth0 / 670520 
muscle39 / 107715362
nerve1 / 1576863
ovary7 / 10205168
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate4 / 18934521
salivary gland0 / 201550 
skin0 / 2105740 
spleen3 / 5395255
stomach1 / 9661910
testis3 / 3304429
thymus1 / 8113112
thyroid1 / 4747321
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208353_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.65
Adipocyte5.4
AdrenalCortex5.85
Adrenalgland4.7
Amygdala5.65
Appendix18.5
AtrioventricularNode4.45
BDCA4+_DentriticCells5.95
Bonemarrow107.9
BronchialEpithelialCells5.4
CD105+_Endothelial426.1
CD14+_Monocytes5.9
CD19+_BCells(neg._sel.)7.35
CD33+_Myeloid6.85
CD34+108.1
CD4+_Tcells5.9
CD56+_NKCells6.35
CD71+_EarlyErythroid1149.6
CD8+_Tcells5.25
CardiacMyocytes7.7
Caudatenucleus4.95
Cerebellum83.4
CerebellumPeduncles126.05
CiliaryGanglion4.05
CingulateCortex7.65
Colorectaladenocarcinoma5.6
DorsalRootGanglion4.25
FetalThyroid5.45
Fetalbrain5.55
Fetalliver171.7
Fetallung4.7
GlobusPallidus5.85
Heart67.5
Hypothalamus6.15
Kidney4.55
Leukemia_chronicMyelogenousK-5629.6
Leukemia_promyelocytic-HL-604.9
Leukemialymphoblastic(MOLT-4)4.35
Liver7.3
Lung5.95
Lymphnode4.65
Lymphoma_burkitts(Daudi)8.25
Lymphoma_burkitts(Raji)7.75
MedullaOblongata5.2
OccipitalLobe5.05
OlfactoryBulb4.3
Ovary3.65
Pancreas4.45
PancreaticIslet5.9
ParietalLobe6.1
Pituitary6.5
Placenta5.7
Pons5.25
PrefrontalCortex7.7
Prostate6.4
Salivarygland4.5
SkeletalMuscle233.95
Skin4.35
SmoothMuscle6.15
Spinalcord5.85
SubthalamicNucleus5.05
SuperiorCervicalGanglion6.7
TemporalLobe5.4
Testis4.75
TestisGermCell4.6
TestisIntersitial4.65
TestisLeydigCell5.4
TestisSeminiferousTubule4.75
Thalamus5.6
Thymus4.2
Thyroid7.05
Tongue69.35
Tonsil5.35
Trachea4.65
TrigeminalGanglion6.3
Uterus4.4
UterusCorpus5
WholeBlood5.95
Wholebrain5.55
colon5.65
pineal_day6.72
pineal_night6.68
retina6.725
small_intestine5.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P216108
  • 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
Amygdala6.63 ± 0.6
Basal Forebrain7.98 ± 0.59
Basal Part of Pons8.62 ± 0.2
Cerebellar Cortex8.51 ± 0.38
Cerebellar Nuclei9.46 ± 0.28
Claustrum6.6 ± 0.7
Epithalamus6.61 ± 1.42
Frontal Lobe7.46 ± 0.92
Globus Pallidus7.85 ± 0.73
Hypothalamus7.99 ± 0.44
Insula6.96 ± 0.71
Limbic Lobe6.81 ± 0.77
Mesencephalon8.33 ± 1.05
Myelencephalon7.52 ± 1.05
Occipital Lobe8.62 ± 0.91
Parietal Lobe8.02 ± 0.76
Pontine Tegmentum7.29 ± 0.82
Striatum5.93 ± 0.52
Subthalamus8.94 ± 0.39
Temporal Lobe7.22 ± 0.81
Thalamus7.43 ± 0.87
White Matter3.73 ± 0.94
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ank1CBCerebellum61.91
100
Ank1CTXCerebral cortex45.39
40.58
Ank1HIPHippocampal region27.72
36.97
Ank1HPFHippocampal formation31.89
36.77
Ank1HYHypothalamus39.5
36.77
Ank1LSXLateral septal complex18.59
14.18
Ank1MBMidbrain64.98
74.26
Ank1MYMedulla75.86
100
Ank1OLFOlfactory bulb44.77
40.97
Ank1PPons68.74
99.82
Ank1PALPallidum38.28
41.95
Ank1RHPRetrohippocampal region36.29
35.12
Ank1sAMYStriatum-like amygdalar nuclei36.13
30.76
Ank1STRStriatum17.76
14.92
Ank1STRdStriatum dorsal region12.82
10.89
Ank1STRvStriatum ventral region22.37
17.7
Ank1THThalamus73.47
73.18
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00024174 13 401 413 ALNGFTPLHIACK 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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