AutismKB 2.0

Annotation Detail for HAP1


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Basic Information Top
Gene Symbol:HAP1 ( HAP2,HIP5,HLP,hHLP1 )
Gene Full Name: huntingtin-associated protein 1
Band: 17q21.2
Quick LinksEntrez ID:9001; OMIM: 600947; Uniprot ID:HAP1_HUMAN; ENSEMBL ID: ENSG00000173805; HGNC ID: 4812
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 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile7 / 55556125
adult12 / 19391216
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 tumor3 / 17290173
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma5 / 10688346
head and neck tumor8 / 13630258
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal114 / 336030733
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
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 marrow0 / 488010 
brain120 / 1100989108
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus3 / 20209148
eye1 / 2110544
heart1 / 8962611
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth8 / 67052119
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis9 / 33044227
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus17 / 23287872
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211604_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.1
Adipocyte4.75
AdrenalCortex5.2
Adrenalgland4.05
Amygdala5.05
Appendix4.8
AtrioventricularNode3.7
BDCA4+_DentriticCells5.25
Bonemarrow4.75
BronchialEpithelialCells4.7
CD105+_Endothelial4.9
CD14+_Monocytes5.05
CD19+_BCells(neg._sel.)5
CD33+_Myeloid5.9
CD34+5.85
CD4+_Tcells8.55
CD56+_NKCells5.6
CD71+_EarlyErythroid6
CD8+_Tcells4.7
CardiacMyocytes8.15
Caudatenucleus4.3
Cerebellum3.9
CerebellumPeduncles7.4
CiliaryGanglion3.55
CingulateCortex7.25
Colorectaladenocarcinoma4.8
DorsalRootGanglion3.7
FetalThyroid4.7
Fetalbrain5.15
Fetalliver4.1
Fetallung3.9
GlobusPallidus3.55
Heart6.05
Hypothalamus5.5
Kidney3.85
Leukemia_chronicMyelogenousK-5625.65
Leukemia_promyelocytic-HL-604.45
Leukemialymphoblastic(MOLT-4)3.8
Liver6.3
Lung5.2
Lymphnode4.05
Lymphoma_burkitts(Daudi)6.45
Lymphoma_burkitts(Raji)6.75
MedullaOblongata4.4
OccipitalLobe6.8
OlfactoryBulb5.7
Ovary3.95
Pancreas3.9
PancreaticIslet5.55
ParietalLobe5.35
Pituitary5.75
Placenta4.85
Pons4.65
PrefrontalCortex5.85
Prostate5.55
Salivarygland3.8
SkeletalMuscle6.3
Skin5.6
SmoothMuscle5.95
Spinalcord5.25
SubthalamicNucleus4.7
SuperiorCervicalGanglion5.5
TemporalLobe4.55
Testis4.15
TestisGermCell4.05
TestisIntersitial4.1
TestisLeydigCell5.9
TestisSeminiferousTubule5.7
Thalamus4.9
Thymus3.8
Thyroid5.85
Tongue5.15
Tonsil4.95
Trachea4.05
TrigeminalGanglion6.3
Uterus3.9
UterusCorpus4.65
WholeBlood4.85
Wholebrain4.05
colon4.85
pineal_day6.56
pineal_night7.08
retina5.875
small_intestine4.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P22129
  • 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
Amygdala3.89 ± 0.58
Basal Forebrain3.38 ± 0.57
Basal Part of Pons3.72 ± 0.34
Cerebellar Cortex3.66 ± 0.58
Cerebellar Nuclei4.03 ± 0.62
Claustrum3.8 ± 1.01
Epithalamus3.06 ± 0.51
Frontal Lobe3.43 ± 0.62
Globus Pallidus3.59 ± 0.64
Hypothalamus3.31 ± 0.65
Insula3.36 ± 0.66
Limbic Lobe3.52 ± 0.68
Mesencephalon3.85 ± 0.73
Myelencephalon3.58 ± 0.69
Occipital Lobe3.71 ± 0.89
Parietal Lobe3.56 ± 0.53
Pontine Tegmentum3.28 ± 0.59
Striatum3.69 ± 0.74
Subthalamus3.42 ± 0.51
Temporal Lobe3.46 ± 0.72
Thalamus3.58 ± 0.61
White Matter3.34 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hap1CBCerebellum21.54
24.68
Hap1CTXCerebral cortex54.48
51.01
Hap1HIPHippocampal region73.38
83.07
Hap1HPFHippocampal formation71.37
77.39
Hap1HYHypothalamus100
100
Hap1LSXLateral septal complex100
100
Hap1MBMidbrain95.58
98.16
Hap1MYMedulla73.28
86.05
Hap1OLFOlfactory bulb100
99.49
Hap1PPons69.33
78.17
Hap1PALPallidum94.67
100
Hap1RHPRetrohippocampal region65.72
66.21
Hap1sAMYStriatum-like amygdalar nuclei100
100
Hap1STRStriatum86.75
84.73
Hap1STRdStriatum dorsal region53.25
39.11
Hap1STRvStriatum ventral region100
100
Hap1THThalamus39.73
47.32
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


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