AutismKB 2.0

Annotation Detail for EHD1


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Basic Information Top
Gene Symbol:EHD1 ( FLJ42622,FLJ44618,H-PAST,HPAST1,PAST,PAST1 )
Gene Full Name: EH-domain containing 1
Band: 11q13.1
Quick LinksEntrez ID:10938; OMIM: 605888; Uniprot ID:EHD1_HUMAN; ENSEMBL ID: ENSG00000110047; HGNC ID: 3242
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 body11 / 70761155
blastocyst7 / 62319112
fetus87 / 564012154
neonate16 / 31097514
infant1 / 2362042
juvenile8 / 55556143
adult374 / 1939121192
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) tumor10 / 94178106
cervical tumor0 / 343660 
chondrosarcoma11 / 82823132
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor24 / 119369201
germ cell tumor93 / 263845352
glioma26 / 106883243
head and neck tumor19 / 136302139
kidney tumor4 / 6895958
leukemia12 / 95842125
liver tumor9 / 9635993
lung tumor6 / 10312758
lymphoma25 / 71755348
non-neoplasia29 / 97250298
normal961 / 3360307285
ovarian tumor4 / 7668252
pancreatic tumor14 / 104616133
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer13 / 102680126
retinoblastoma1 / 4635621
skin tumor17 / 124949136
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland5 / 33197150
ascites3 / 4001574
bladder1 / 2975733
blood40 / 123478323
bone12 / 71655167
bone marrow3 / 4880161
brain403 / 1100989366
cervix8 / 48171166
connective tissue31 / 149255207
ear0 / 162120 
embryonic tissue22 / 215722101
esophagus1 / 2020949
eye9 / 21105442
heart4 / 8962644
intestine29 / 234472123
kidney65 / 211777306
larynx2 / 2414582
liver19 / 20774391
lung94 / 336974278
lymph22 / 44270496
lymph node21 / 91610229
mammary gland13 / 15327184
mouth17 / 67052253
muscle0 / 1077150 
nerve1 / 1576863
ovary4 / 10205139
pancreas20 / 21481293
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta160 / 280825569
prostate24 / 189345126
salivary gland1 / 2015549
skin46 / 210574218
spleen51 / 53952945
stomach25 / 96619258
testis140 / 330442423
thymus66 / 81131813
thyroid2 / 4747342
tonsil5 / 16999294
trachea35 / 52413667
umbilical cord0 / 136800 
uterus28 / 232878120
vascular11 / 51780212
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209039_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts27.45
Adipocyte8.7
AdrenalCortex9.05
Adrenalgland7.3
Amygdala9.25
Appendix7.95
AtrioventricularNode6.2
BDCA4+_DentriticCells31.35
Bonemarrow18.65
BronchialEpithelialCells9.1
CD105+_Endothelial19.8
CD14+_Monocytes58.85
CD19+_BCells(neg._sel.)94.6
CD33+_Myeloid82
CD34+16.45
CD4+_Tcells110.2
CD56+_NKCells216.95
CD71+_EarlyErythroid8.45
CD8+_Tcells113.45
CardiacMyocytes16.45
Caudatenucleus7.85
Cerebellum15
CerebellumPeduncles18.15
CiliaryGanglion6.25
CingulateCortex8.65
Colorectaladenocarcinoma13.4
DorsalRootGanglion6.3
FetalThyroid13.1
Fetalbrain9.2
Fetalliver7.85
Fetallung13.5
GlobusPallidus5.95
Heart14.35
Hypothalamus10.1
Kidney7.35
Leukemia_chronicMyelogenousK-5628.2
Leukemia_promyelocytic-HL-6044.65
Leukemialymphoblastic(MOLT-4)7.1
Liver15.25
Lung70.5
Lymphnode20.4
Lymphoma_burkitts(Daudi)25.5
Lymphoma_burkitts(Raji)230.15
MedullaOblongata7.85
OccipitalLobe7.5
OlfactoryBulb7.15
Ovary5.4
Pancreas6
PancreaticIslet6.4
ParietalLobe8.75
Pituitary9.8
Placenta20.45
Pons8.05
PrefrontalCortex11.1
Prostate13.45
Salivarygland6.05
SkeletalMuscle7.85
Skin6.35
SmoothMuscle13.35
Spinalcord12.15
SubthalamicNucleus7.4
SuperiorCervicalGanglion9.5
TemporalLobe7.6
Testis12.1
TestisGermCell9.85
TestisIntersitial8.2
TestisLeydigCell8.95
TestisSeminiferousTubule8.95
Thalamus8.75
Thymus19.2
Thyroid11.6
Tongue8.3
Tonsil17.55
Trachea7.25
TrigeminalGanglion8.75
Uterus10.9
UterusCorpus6.45
WholeBlood59.75
Wholebrain7.65
colon8.9
pineal_day11
pineal_night10.48
retina11.15
small_intestine8.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P52647
  • 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
Amygdala8.69 ± 0.23
Basal Forebrain9.28 ± 0.34
Basal Part of Pons9.17 ± 0.41
Cerebellar Cortex9.74 ± 0.28
Cerebellar Nuclei9.65 ± 0.23
Claustrum8.87 ± 0.87
Epithalamus9.06 ± 0.34
Frontal Lobe9.19 ± 0.39
Globus Pallidus9.58 ± 0.6
Hypothalamus9.26 ± 0.27
Insula9.16 ± 0.28
Limbic Lobe9.12 ± 0.59
Mesencephalon9.25 ± 0.4
Myelencephalon9.24 ± 0.37
Occipital Lobe9.06 ± 0.44
Parietal Lobe9.03 ± 0.37
Pontine Tegmentum9.26 ± 0.34
Striatum9.01 ± 0.38
Subthalamus9.41 ± 0.05
Temporal Lobe9.14 ± 0.39
Thalamus9.35 ± 0.28
White Matter10.48 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ehd1CBCerebellum13.24
13.74
Ehd1CTXCerebral cortex14.32
9.53
Ehd1HIPHippocampal region37.17
56.27
Ehd1HPFHippocampal formation33.07
41.16
Ehd1HYHypothalamus3.77
2.84
Ehd1LSXLateral septal complex1.52
1.02
Ehd1MBMidbrain6.54
6.43
Ehd1MYMedulla15.2
16.13
Ehd1OLFOlfactory bulb16.34
12.05
Ehd1PPons12.02
12.7
Ehd1PALPallidum11.25
10.33
Ehd1RHPRetrohippocampal region25.37
18.45
Ehd1sAMYStriatum-like amygdalar nuclei13.32
9.01
Ehd1STRStriatum8.87
6.01
Ehd1STRdStriatum dorsal region9.06
6.31
Ehd1STRvStriatum ventral region8.01
4.66
Ehd1THThalamus8.82
7.72
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EHD1_HUMAN_0 0 0 0 VYGALMWSLGK PRIDE
EHD1_HUMAN_1 10 1 10 MFSWVSKDAR PRIDE
EHD1_HUMAN_124 11 124 134 LNAFGNAFLNR PRIDE
EHD1_HUMAN_135 27 135 161 FMCAQLPNPVLDSISIIDTPGILSGEK PRIDE
EHD1_HUMAN_167 14 167 180 GYDFAAVLEWFAER PRIDE
EHD1_HUMAN_167 17 167 183 GYDFAAVLEWFAERVDR PRIDE
EHD1_HUMAN_184 21 184 204 IILLFDAHKLDISDEFSEVIK PRIDE
EHD1_HUMAN_215 16 215 230 VVLNKADQIETQQLMR PRIDE
EHD1_HUMAN_220 11 220 230 ADQIETQQLMR PRIDE
EHD1_HUMAN_221 11 221 231 ADQIETQQLMR PRIDE
EHD1_HUMAN_231 11 231 241 VYGALMWSLGK PRIDE
EHD1_HUMAN_251 17 251 267 VYIGSFWSHPLLIPDNR PRIDE
EHD1_HUMAN_268 19 268 286 KLFEAEEQDLFKDIQSLPR PRIDE
EHD1_HUMAN_269 11 269 279 LFEAEEQDLFK PRIDE
EHD1_HUMAN_269 18 269 286 LFEAEEQDLFKDIQSLPR PRIDE
EHD1_HUMAN_27 15 27 41 QLYAQKLLPLEEHYR PRIDE
EHD1_HUMAN_305 11 305 315 VHAYIISSLKK PRIDE
EHD1_HUMAN_32 9 32 40 LLPLEEHYR PRIDE
EHD1_HUMAN_329 12 329 340 ELVNNLGEIYQK PRIDE
EHD1_HUMAN_344 13 344 356 EHQISPGDFPSLR PRIDE
EHD1_HUMAN_377 15 377 391 LLDTVDDMLANDIAR PRIDE
EHD1_HUMAN_378 15 378 392 LLDTVDDMLANDIAR PRIDE
EHD1_HUMAN_399 12 399 410 QEESLMPSQVVK PRIDE
EHD1_HUMAN_486 23 486 508 LADVDKDGLLDDEEFALANHLIK PRIDE
EHD1_HUMAN_76 11 76 86 HLIEQDFPGMR PRIDE
PAp00002506 27 136 162 FMCAQLPNPVLDSISIIDTPGILSGEK 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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