AutismKB 2.0

Annotation Detail for AHI1


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Basic Information Top
Gene Symbol:AHI1 ( AHI-1,DKFZp686J1653,FLJ14023,FLJ20069,JBTS3,ORF1,dJ71N10.1 )
Gene Full Name: Abelson helper integration site 1
Band: 6q23.3
Quick LinksEntrez ID:54806; OMIM: 608894; Uniprot ID:AHI1_HUMAN; ENSEMBL ID: ENSG00000135541; HGNC ID: 21575
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 
blastocyst2 / 6231932
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult84 / 193912143
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 
chondrosarcoma5 / 8282360
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor15 / 26384556
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor2 / 6895929
leukemia4 / 9584241
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal144 / 336030742
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer9 / 10268087
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone4 / 7165555
bone marrow4 / 4880181
brain26 / 110098923
cervix0 / 481710 
connective tissue6 / 14925540
ear1 / 1621261
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye12 / 21105456
heart1 / 8962611
intestine2 / 2344728
kidney13 / 21177761
larynx1 / 2414541
liver16 / 20774377
lung11 / 33697432
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth0 / 670520 
muscle8 / 10771574
nerve2 / 15768126
ovary1 / 1020519
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland4 / 16585241
placenta2 / 2808257
prostate18 / 18934595
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach3 / 9661931
testis32 / 33044296
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221569_at
Cell line Expression level Expression bar
721_B_lymphoblasts11
Adipocyte20.45
AdrenalCortex25.25
Adrenalgland15.2
Amygdala60.65
Appendix23.35
AtrioventricularNode16.8
BDCA4+_DentriticCells181.8
Bonemarrow21.15
BronchialEpithelialCells18.1
CD105+_Endothelial18.85
CD14+_Monocytes14.8
CD19+_BCells(neg._sel.)15.15
CD33+_Myeloid21.95
CD34+34.5
CD4+_Tcells14.95
CD56+_NKCells15.3
CD71+_EarlyErythroid15.45
CD8+_Tcells14.45
CardiacMyocytes21.15
Caudatenucleus46.45
Cerebellum22.45
CerebellumPeduncles33.7
CiliaryGanglion15.35
CingulateCortex51.55
Colorectaladenocarcinoma17.6
DorsalRootGanglion18
FetalThyroid18.2
Fetalbrain31.6
Fetalliver16.55
Fetallung22.6
GlobusPallidus60.55
Heart25.65
Hypothalamus138.5
Kidney15.75
Leukemia_chronicMyelogenousK-56226.55
Leukemia_promyelocytic-HL-6025.65
Leukemialymphoblastic(MOLT-4)113.35
Liver25.65
Lung19.5
Lymphnode20.55
Lymphoma_burkitts(Daudi)35.65
Lymphoma_burkitts(Raji)31.8
MedullaOblongata66.95
OccipitalLobe41.15
OlfactoryBulb17.45
Ovary27.55
Pancreas18.45
PancreaticIslet42.7
ParietalLobe29.15
Pituitary170.65
Placenta13.55
Pons36
PrefrontalCortex75
Prostate16.5
Salivarygland16.85
SkeletalMuscle28.4
Skin15.3
SmoothMuscle24.35
Spinalcord39.25
SubthalamicNucleus55.05
SuperiorCervicalGanglion43.05
TemporalLobe25.1
Testis18.95
TestisGermCell33.25
TestisIntersitial17.3
TestisLeydigCell22.65
TestisSeminiferousTubule22.85
Thalamus36.65
Thymus15
Thyroid22.65
Tongue18.6
Tonsil18.3
Trachea16.25
TrigeminalGanglion22.2
Uterus26.55
UterusCorpus26.05
WholeBlood15.1
Wholebrain18.2
colon17.95
pineal_day427.94
pineal_night339.76
retina34
small_intestine16.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_75_PI416408490
  • 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
Amygdala8.4 ± 0.35
Basal Forebrain8.08 ± 0.26
Basal Part of Pons7.7 ± 0.33
Cerebellar Cortex8.39 ± 0.18
Cerebellar Nuclei7.45 ± 0.28
Claustrum7.9 ± 0.51
Epithalamus7.99 ± 0.28
Frontal Lobe7.81 ± 0.34
Globus Pallidus7.39 ± 0.16
Hypothalamus8.19 ± 0.35
Insula7.9 ± 0.24
Limbic Lobe8 ± 0.44
Mesencephalon8.11 ± 0.5
Myelencephalon7.97 ± 0.44
Occipital Lobe8.6 ± 0.5
Parietal Lobe8.13 ± 0.36
Pontine Tegmentum7.96 ± 0.43
Striatum7.46 ± 0.29
Subthalamus7.72 ± 0.26
Temporal Lobe7.97 ± 0.36
Thalamus7.91 ± 0.36
White Matter7.63 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ahi1CBCerebellum90.84
100
Ahi1CTXCerebral cortex100
100
Ahi1HIPHippocampal region100
100
Ahi1HPFHippocampal formation100
100
Ahi1HYHypothalamus100
100
Ahi1LSXLateral septal complex100
100
Ahi1MBMidbrain100
100
Ahi1MYMedulla100
100
Ahi1OLFOlfactory bulb100
100
Ahi1PPons100
100
Ahi1PALPallidum100
100
Ahi1RHPRetrohippocampal region100
100
Ahi1sAMYStriatum-like amygdalar nuclei100
100
Ahi1STRStriatum100
100
Ahi1STRdStriatum dorsal region100
100
Ahi1STRvStriatum ventral region100
100
Ahi1THThalamus100
100
Peptide Top

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