AutismKB 2.0

Annotation Detail for EHD4


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EHD4 ( PAST4 )
Gene Full Name: EH-domain containing 4
Band: 15q15.1
Quick LinksEntrez ID:30844; OMIM: 605892; Uniprot ID:EHD4_HUMAN; ENSEMBL ID: ENSG00000103966; HGNC ID: 3245
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
blastocyst4 / 6231964
fetus3 / 5640125
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult54 / 193912127
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor7 / 26384526
glioma4 / 10688337
head and neck tumor1 / 1363027
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma5 / 7175569
non-neoplasia0 / 972500 
normal68 / 336030720
ovarian tumor3 / 7668239
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor15 / 124949120
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites0 / 400150 
bladder1 / 2975733
blood2 / 12347816
bone3 / 7165541
bone marrow1 / 4880120
brain13 / 110098911
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus1 / 2020949
eye2 / 2110549
heart0 / 896260 
intestine8 / 23447234
kidney11 / 21177751
larynx0 / 241450 
liver1 / 2077434
lung17 / 33697450
lymph5 / 44270112
lymph node5 / 9161054
mammary gland6 / 15327139
mouth0 / 670520 
muscle6 / 10771555
nerve0 / 157680 
ovary4 / 10205139
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta6 / 28082521
prostate6 / 18934531
salivary gland0 / 201550 
skin18 / 21057485
spleen0 / 539520 
stomach1 / 9661910
testis2 / 3304426
thymus1 / 8113112
thyroid0 / 474730 
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209536_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts442.35
Adipocyte25.05
AdrenalCortex26.4
Adrenalgland27
Amygdala25
Appendix31.05
AtrioventricularNode25.3
BDCA4+_DentriticCells116.7
Bonemarrow33.7
BronchialEpithelialCells351.25
CD105+_Endothelial29
CD14+_Monocytes245.65
CD19+_BCells(neg._sel.)44.95
CD33+_Myeloid402
CD34+41
CD4+_Tcells68.7
CD56+_NKCells121.3
CD71+_EarlyErythroid21.3
CD8+_Tcells41.3
CardiacMyocytes56.4
Caudatenucleus21.9
Cerebellum18.75
CerebellumPeduncles32.55
CiliaryGanglion50
CingulateCortex23.35
Colorectaladenocarcinoma152.2
DorsalRootGanglion29.1
FetalThyroid40.95
Fetalbrain22.85
Fetalliver20.8
Fetallung62.65
GlobusPallidus18.5
Heart326.25
Hypothalamus25.15
Kidney33.85
Leukemia_chronicMyelogenousK-56233.25
Leukemia_promyelocytic-HL-6073.7
Leukemialymphoblastic(MOLT-4)23.55
Liver32.15
Lung833.8
Lymphnode59.45
Lymphoma_burkitts(Daudi)44.3
Lymphoma_burkitts(Raji)43.75
MedullaOblongata26
OccipitalLobe21.75
OlfactoryBulb43.95
Ovary22.2
Pancreas39.8
PancreaticIslet56.4
ParietalLobe24.55
Pituitary28.1
Placenta90.15
Pons27.75
PrefrontalCortex29
Prostate102.8
Salivarygland21.1
SkeletalMuscle27.1
Skin44
SmoothMuscle48.45
Spinalcord43.35
SubthalamicNucleus22.25
SuperiorCervicalGanglion53.25
TemporalLobe20.45
Testis27.45
TestisGermCell20.75
TestisIntersitial27.4
TestisLeydigCell23.9
TestisSeminiferousTubule24.05
Thalamus23.45
Thymus26.2
Thyroid159.7
Tongue33.5
Tonsil66.95
Trachea66.05
TrigeminalGanglion25.45
Uterus42.3
UterusCorpus40.35
WholeBlood68.55
Wholebrain22.35
colon176.8
pineal_day29.16
pineal_night40.1
retina188.5
small_intestine117.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16604_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
Amygdala3.13 ± 0.92
Basal Forebrain2.89 ± 0.33
Basal Part of Pons2.6 ± 0.45
Cerebellar Cortex3.02 ± 0.7
Cerebellar Nuclei3.23 ± 0.62
Claustrum3.39 ± 0.77
Epithalamus2.73 ± 0.67
Frontal Lobe2.9 ± 0.76
Globus Pallidus3.69 ± 0.62
Hypothalamus2.72 ± 0.83
Insula2.64 ± 0.87
Limbic Lobe2.83 ± 0.75
Mesencephalon3.16 ± 0.86
Myelencephalon3.02 ± 0.78
Occipital Lobe3.32 ± 0.7
Parietal Lobe2.97 ± 0.83
Pontine Tegmentum3.03 ± 0.69
Striatum2.68 ± 0.62
Subthalamus3.81 ± 0.64
Temporal Lobe2.94 ± 0.77
Thalamus3.21 ± 0.77
White Matter4.42 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ehd4CBCerebellum10.06
11.12
Ehd4CTXCerebral cortex3.54
2.5
Ehd4HIPHippocampal region1.45
1.24
Ehd4HPFHippocampal formation2.49
2.02
Ehd4HYHypothalamus2.68
2.1
Ehd4LSXLateral septal complex1.24
0.73
Ehd4MBMidbrain6.17
5.93
Ehd4MYMedulla15.9
15.91
Ehd4OLFOlfactory bulb10.48
8.25
Ehd4PPons11.82
12
Ehd4PALPallidum6.77
6.39
Ehd4RHPRetrohippocampal region4.73
3.51
Ehd4sAMYStriatum-like amygdalar nuclei2.45
1.86
Ehd4STRStriatum4.3
2.96
Ehd4STRdStriatum dorsal region5.19
3.67
Ehd4STRvStriatum ventral region3.45
2.05
Ehd4THThalamus3.75
3.05
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EHD4_HUMAN_0 0 0 0 GYDFCQVLQWFAER PRIDE
EHD4_HUMAN_0 0 0 0 IILLFDAHKLDISDEFSEAIK PRIDE
EHD4_HUMAN_0 0 0 0 LFEAEAQDLFR PRIDE
EHD4_HUMAN_0 0 0 0 LPEIYIQLQR PRIDE
EHD4_HUMAN_0 0 0 0 VYGALMWSLGK PRIDE
EHD4_HUMAN_138 12 138 149 FMCSQLPNQVLK PRIDE
EHD4_HUMAN_14 15 14 28 AGGADAVQTVTGGLR PRIDE
EHD4_HUMAN_170 17 170 186 GYDFCQVLQWFAERVDR PRIDE
EHD4_HUMAN_234 11 234 244 VYGALMWSLGK PRIDE
EHD4_HUMAN_272 11 272 282 LFEAEAQDLFR PRIDE
EHD4_HUMAN_320 8 320 327 EMPSVFGK PRIDE
EHD4_HUMAN_337 10 337 346 LPEIYIQLQR PRIDE
EHD4_HUMAN_347 13 347 359 EYQISAGDFPEVK PRIDE
EHD4_HUMAN_80 11 80 90 YLLEQDFPGMR PRIDE
PAp00033037 18 447 464 DKPVYDELFYTLSPINGK 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved