AutismKB 2.0

Annotation Detail for EHD2


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Basic Information Top
Gene Symbol:EHD2 ( FLJ96617,PAST2 )
Gene Full Name: EH-domain containing 2
Band: 19q13.33
Quick LinksEntrez ID:30846; OMIM: 605890; Uniprot ID:EHD2_HUMAN; ENSEMBL ID: ENSG00000024422; HGNC ID: 3243
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 body1 / 7076114
blastocyst0 / 623190 
fetus2 / 5640123
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult20 / 193912110
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 tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal40 / 336030711
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
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 tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone6 / 7165583
bone marrow0 / 488010 
brain1 / 11009890 
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye1 / 2110544
heart2 / 8962622
intestine1 / 2344724
kidney1 / 2117774
larynx0 / 241450 
liver3 / 20774314
lung6 / 33697417
lymph0 / 442700 
lymph node1 / 9161010
mammary gland10 / 15327165
mouth0 / 670520 
muscle1 / 1077159
nerve1 / 1576863
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate2 / 18934510
salivary gland2 / 2015599
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 45297_at
Cell line Expression level Expression bar
721_B_lymphoblasts3.9
Adipocyte75.1
AdrenalCortex6.75
Adrenalgland6.6
Amygdala4.05
Appendix7
AtrioventricularNode2.85
BDCA4+_DentriticCells4
Bonemarrow3.8
BronchialEpithelialCells73.05
CD105+_Endothelial3.8
CD14+_Monocytes3.95
CD19+_BCells(neg._sel.)4.05
CD33+_Myeloid4.85
CD34+4.7
CD4+_Tcells3.9
CD56+_NKCells3.85
CD71+_EarlyErythroid3.55
CD8+_Tcells3.5
CardiacMyocytes23.25
Caudatenucleus3.4
Cerebellum3.1
CerebellumPeduncles4.3
CiliaryGanglion3.25
CingulateCortex3.85
Colorectaladenocarcinoma3.7
DorsalRootGanglion3.6
FetalThyroid11.25
Fetalbrain3.8
Fetalliver3.35
Fetallung15.25
GlobusPallidus2.85
Heart7.7
Hypothalamus4.2
Kidney3.1
Leukemia_chronicMyelogenousK-5624.4
Leukemia_promyelocytic-HL-603.4
Leukemialymphoblastic(MOLT-4)3.55
Liver6.35
Lung37.6
Lymphnode4.2
Lymphoma_burkitts(Daudi)4.85
Lymphoma_burkitts(Raji)5.25
MedullaOblongata3.55
OccipitalLobe3.4
OlfactoryBulb6.55
Ovary2.55
Pancreas3.05
PancreaticIslet4.05
ParietalLobe3.95
Pituitary4.9
Placenta11.65
Pons3.6
PrefrontalCortex4.55
Prostate5.95
Salivarygland3.4
SkeletalMuscle5.8
Skin5.65
SmoothMuscle40.15
Spinalcord4.35
SubthalamicNucleus3.5
SuperiorCervicalGanglion4.3
TemporalLobe3.5
Testis3.45
TestisGermCell3.2
TestisIntersitial3.2
TestisLeydigCell3.75
TestisSeminiferousTubule3.3
Thalamus3.9
Thymus3.25
Thyroid5.55
Tongue5.45
Tonsil3.7
Trachea3.7
TrigeminalGanglion4.45
Uterus6.9
UterusCorpus8.05
WholeBlood3.95
Wholebrain3.3
colon4.05
pineal_day4.66
pineal_night4.16
retina4.375
small_intestine6.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P119390
  • 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
Amygdala4.54 ± 0.54
Basal Forebrain4.44 ± 0.71
Basal Part of Pons3.77 ± 0.39
Cerebellar Cortex3.9 ± 0.44
Cerebellar Nuclei4.59 ± 0.46
Claustrum4.16 ± 0.66
Epithalamus4.32 ± 0.57
Frontal Lobe4.24 ± 0.55
Globus Pallidus5.62 ± 0.34
Hypothalamus4.09 ± 0.88
Insula4.21 ± 0.7
Limbic Lobe4.05 ± 0.68
Mesencephalon4.64 ± 0.55
Myelencephalon4.46 ± 0.66
Occipital Lobe4.95 ± 0.58
Parietal Lobe4.6 ± 0.48
Pontine Tegmentum4.44 ± 0.67
Striatum4.36 ± 0.7
Subthalamus4.65 ± 0.57
Temporal Lobe4.43 ± 0.6
Thalamus4.48 ± 0.59
White Matter4.27 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ehd2CBCerebellum21.4
29.64
Ehd2CTXCerebral cortex36.76
28.8
Ehd2HIPHippocampal region30.52
42.19
Ehd2HPFHippocampal formation31.45
36.59
Ehd2HYHypothalamus13.78
11.36
Ehd2LSXLateral septal complex10.05
7.87
Ehd2MBMidbrain12.99
14.6
Ehd2MYMedulla18.44
22.18
Ehd2OLFOlfactory bulb43.51
38.82
Ehd2PPons16.94
19.13
Ehd2PALPallidum20.6
20.01
Ehd2RHPRetrohippocampal region34.44
29.73
Ehd2sAMYStriatum-like amygdalar nuclei33.1
27.73
Ehd2STRStriatum27.5
21.33
Ehd2STRdStriatum dorsal region27.91
21.67
Ehd2STRvStriatum ventral region32.5
23.34
Ehd2THThalamus18.41
17.26
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EHD2_HUMAN_221 11 221 231 ADMVETQQLMR PRIDE
EHD2_HUMAN_269 11 269 279 LFELEEQDLFR PRIDE
EHD2_HUMAN_293 8 293 300 KLNDLVKR PRIDE
EHD2_HUMAN_32 9 32 40 LLPLEEHYR PRIDE
EHD2_HUMAN_359 12 359 370 MQELLMAHDFTK PRIDE
EHD2_HUMAN_377 15 377 391 LLEALDEMLTHDIAK PRIDE
EHD2_HUMAN_378 15 378 392 LLEALDEMLTHDIAK PRIDE
EHD2_HUMAN_399 27 399 425 QEELESTEVGVQGGAFEGTHMGPFVER PRIDE
EHD2_HUMAN_516 12 516 527 LEGHGLPANLPR PRIDE
EHD2_HUMAN_7 13 7 19 RGGARGQQPEAIR PRIDE
EHD2_HUMAN_71 16 71 86 TSFIQYLLEQEVPGSR PRIDE
PAp00010506 17 342 358 IQLEHHISPGDFPDCQK 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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