AutismKB 2.0

Annotation Detail for HERC2


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Basic Information Top
Gene Symbol:HERC2 ( D15F37S1,DKFZp547P028,KIAA0393,SHEP1,jdf2,p528 )
Gene Full Name: hect domain and RLD 2
Band: 15q13.1
Quick LinksEntrez ID:8924; OMIM: 605837; Uniprot ID:HERC2_HUMAN; ENSEMBL ID: ENSG00000128731; HGNC ID: 4868
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 body5 / 7076170
blastocyst7 / 62319112
fetus33 / 56401258
neonate0 / 310970 
infant1 / 2362042
juvenile2 / 5555635
adult101 / 193912152
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor3 / 26384511
glioma6 / 10688356
head and neck tumor10 / 13630273
kidney tumor5 / 6895972
leukemia4 / 9584241
liver tumor3 / 9635931
lung tumor18 / 103127174
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal174 / 336030751
ovarian tumor3 / 7668239
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor6 / 12494948
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites2 / 4001549
bladder1 / 2975733
blood3 / 12347824
bone3 / 7165541
bone marrow2 / 4880140
brain57 / 110098951
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye12 / 21105456
heart1 / 8962611
intestine18 / 23447276
kidney8 / 21177737
larynx0 / 241450 
liver4 / 20774319
lung34 / 336974100
lymph2 / 4427045
lymph node26 / 91610283
mammary gland5 / 15327132
mouth10 / 67052149
muscle2 / 10771518
nerve1 / 1576863
ovary4 / 10205139
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate10 / 18934552
salivary gland0 / 201550 
skin7 / 21057433
spleen5 / 5395292
stomach1 / 9661910
testis5 / 33044215
thymus7 / 8113186
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217902_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.9
Adipocyte14.8
AdrenalCortex15.8
Adrenalgland12.3
Amygdala111.9
Appendix14.35
AtrioventricularNode13.7
BDCA4+_DentriticCells33.35
Bonemarrow13.75
BronchialEpithelialCells11.35
CD105+_Endothelial34.85
CD14+_Monocytes10.85
CD19+_BCells(neg._sel.)15.55
CD33+_Myeloid19.05
CD34+70.2
CD4+_Tcells39.05
CD56+_NKCells27.25
CD71+_EarlyErythroid11
CD8+_Tcells33.9
CardiacMyocytes17.2
Caudatenucleus41.75
Cerebellum32.95
CerebellumPeduncles23.6
CiliaryGanglion9.9
CingulateCortex41.2
Colorectaladenocarcinoma24.55
DorsalRootGanglion10.95
FetalThyroid15.8
Fetalbrain39.2
Fetalliver12.75
Fetallung12.35
GlobusPallidus11.5
Heart17.4
Hypothalamus105.3
Kidney11.3
Leukemia_chronicMyelogenousK-56234.2
Leukemia_promyelocytic-HL-6014.6
Leukemialymphoblastic(MOLT-4)12.2
Liver18.65
Lung14.05
Lymphnode12.5
Lymphoma_burkitts(Daudi)17.45
Lymphoma_burkitts(Raji)22.55
MedullaOblongata20.55
OccipitalLobe30.3
OlfactoryBulb12.95
Ovary9.05
Pancreas9.75
PancreaticIslet15.75
ParietalLobe19.45
Pituitary18.85
Placenta15
Pons21.7
PrefrontalCortex67.6
Prostate27.9
Salivarygland11.95
SkeletalMuscle17.25
Skin11
SmoothMuscle13.2
Spinalcord22.2
SubthalamicNucleus19.2
SuperiorCervicalGanglion16.25
TemporalLobe19.55
Testis14.6
TestisGermCell11.55
TestisIntersitial13.2
TestisLeydigCell12.6
TestisSeminiferousTubule10.2
Thalamus38.5
Thymus21.85
Thyroid27.95
Tongue14.2
Tonsil13.6
Trachea11.45
TrigeminalGanglion17.1
Uterus22.85
UterusCorpus12.75
WholeBlood12.25
Wholebrain67.55
colon16.6
pineal_day83.66
pineal_night96.3
retina41.6
small_intestine16.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P33407
  • 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
Amygdala6.77 ± 0.38
Basal Forebrain6.83 ± 0.32
Basal Part of Pons7 ± 0.17
Cerebellar Cortex6.7 ± 0.26
Cerebellar Nuclei6.62 ± 0.4
Claustrum6.84 ± 0.41
Epithalamus6.43 ± 0.44
Frontal Lobe6.76 ± 0.27
Globus Pallidus6.79 ± 0.3
Hypothalamus6.63 ± 0.27
Insula6.72 ± 0.26
Limbic Lobe6.87 ± 0.25
Mesencephalon6.7 ± 0.27
Myelencephalon6.8 ± 0.31
Occipital Lobe6.87 ± 0.29
Parietal Lobe6.86 ± 0.3
Pontine Tegmentum6.68 ± 0.3
Striatum6.71 ± 0.28
Subthalamus6.61 ± 0.4
Temporal Lobe6.86 ± 0.28
Thalamus6.85 ± 0.28
White Matter7.45 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Herc2CBCerebellum19.95
25.17
Herc2CTXCerebral cortex91.23
73.83
Herc2HIPHippocampal region60.87
97.9
Herc2HPFHippocampal formation65.11
83.38
Herc2HYHypothalamus43.5
35.31
Herc2LSXLateral septal complex19.23
18.72
Herc2MBMidbrain41.24
39.23
Herc2MYMedulla44.06
49.02
Herc2OLFOlfactory bulb51.69
41.81
Herc2PPons39.76
42.9
Herc2PALPallidum37.05
34.87
Herc2RHPRetrohippocampal region73.25
66.43
Herc2sAMYStriatum-like amygdalar nuclei41.08
31.28
Herc2STRStriatum29.92
22.95
Herc2STRdStriatum dorsal region26.49
20.71
Herc2STRvStriatum ventral region36.94
25.7
Herc2THThalamus55.55
48.49
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00495644 25 3607 3631 LSSQPVVVESSHPYTDDTSTSGTVK 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