AutismKB 2.0

Annotation Detail for HERC1


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Basic Information Top
Gene Symbol:HERC1 ( p532,p619 )
Gene Full Name: hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1
Band: 15q22.31
Quick LinksEntrez ID:8925; OMIM: 605109; Uniprot ID:HERC1_HUMAN; ENSEMBL ID: ENSG00000103657; HGNC ID: 4867
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
blastocyst2 / 6231932
fetus41 / 56401272
neonate1 / 3109732
infant2 / 2362084
juvenile3 / 5555653
adult156 / 193912180
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor5 / 9417853
cervical tumor5 / 34366145
chondrosarcoma3 / 8282336
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor12 / 26384545
glioma1 / 1068839
head and neck tumor12 / 13630288
kidney tumor3 / 6895943
leukemia8 / 9584283
liver tumor3 / 9635931
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal240 / 336030771
ovarian tumor1 / 7668213
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma5 / 46356107
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor14 / 125191111
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites2 / 4001549
bladder2 / 2975767
blood5 / 12347840
bone5 / 7165569
bone marrow4 / 4880181
brain92 / 110098983
cervix5 / 48171103
connective tissue16 / 149255107
ear2 / 16212123
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye15 / 21105471
heart3 / 8962633
intestine12 / 23447251
kidney6 / 21177728
larynx1 / 2414541
liver12 / 20774357
lung16 / 33697447
lymph0 / 442700 
lymph node14 / 91610152
mammary gland10 / 15327165
mouth6 / 6705289
muscle16 / 107715148
nerve3 / 15768190
ovary1 / 1020519
pancreas17 / 21481279
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta11 / 28082539
prostate5 / 18934526
salivary gland0 / 201550 
skin0 / 2105740 
spleen3 / 5395255
stomach0 / 966190 
testis24 / 33044272
thymus7 / 8113186
thyroid8 / 47473168
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus16 / 23287868
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218306_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts41.9
Adipocyte13.65
AdrenalCortex11.85
Adrenalgland12.75
Amygdala116.65
Appendix12.05
AtrioventricularNode7.2
BDCA4+_DentriticCells38.8
Bonemarrow21.25
BronchialEpithelialCells8.8
CD105+_Endothelial30.95
CD14+_Monocytes15.1
CD19+_BCells(neg._sel.)47.75
CD33+_Myeloid45.1
CD34+45.45
CD4+_Tcells111
CD56+_NKCells41.5
CD71+_EarlyErythroid105.1
CD8+_Tcells162.9
CardiacMyocytes9.55
Caudatenucleus38
Cerebellum21.75
CerebellumPeduncles54
CiliaryGanglion9.2
CingulateCortex108.65
Colorectaladenocarcinoma8.8
DorsalRootGanglion6.95
FetalThyroid36.7
Fetalbrain86.65
Fetalliver67.7
Fetallung24.85
GlobusPallidus28.2
Heart9.15
Hypothalamus96.65
Kidney9.15
Leukemia_chronicMyelogenousK-56261.45
Leukemia_promyelocytic-HL-6016.6
Leukemialymphoblastic(MOLT-4)17.25
Liver11.5
Lung17.1
Lymphnode57.5
Lymphoma_burkitts(Daudi)21.4
Lymphoma_burkitts(Raji)24.65
MedullaOblongata86.1
OccipitalLobe68.45
OlfactoryBulb17.6
Ovary10.1
Pancreas8.55
PancreaticIslet11.6
ParietalLobe66.9
Pituitary31.3
Placenta14.75
Pons40.6
PrefrontalCortex249.45
Prostate33.3
Salivarygland23.4
SkeletalMuscle22.65
Skin6.95
SmoothMuscle8.35
Spinalcord38.75
SubthalamicNucleus51
SuperiorCervicalGanglion13.75
TemporalLobe43.4
Testis20.95
TestisGermCell24.1
TestisIntersitial18.4
TestisLeydigCell10.2
TestisSeminiferousTubule17.5
Thalamus51.95
Thymus41.5
Thyroid55.35
Tongue11.9
Tonsil22.35
Trachea11.7
TrigeminalGanglion10.35
Uterus35.2
UterusCorpus20.6
WholeBlood40.45
Wholebrain57.45
colon12.05
pineal_day59.46
pineal_night70.64
retina21.95
small_intestine13.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_2319_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
Amygdala7.03 ± 0.26
Basal Forebrain6.96 ± 0.24
Basal Part of Pons7.13 ± 0.29
Cerebellar Cortex6.89 ± 0.21
Cerebellar Nuclei6.83 ± 0.31
Claustrum7.48 ± 0.23
Epithalamus6.48 ± 0.32
Frontal Lobe7.02 ± 0.33
Globus Pallidus6.48 ± 0.25
Hypothalamus6.74 ± 0.33
Insula6.95 ± 0.21
Limbic Lobe7.17 ± 0.28
Mesencephalon6.96 ± 0.35
Myelencephalon6.97 ± 0.31
Occipital Lobe6.98 ± 0.25
Parietal Lobe7.12 ± 0.32
Pontine Tegmentum6.94 ± 0.27
Striatum6.87 ± 0.34
Subthalamus7.1 ± 0.04
Temporal Lobe7.1 ± 0.26
Thalamus6.92 ± 0.27
White Matter7 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Herc1CBCerebellum20.02
38.81
Herc1CTXCerebral cortex100
100
Herc1HIPHippocampal region100
100
Herc1HPFHippocampal formation100
100
Herc1HYHypothalamus100
100
Herc1LSXLateral septal complex77.59
66.27
Herc1MBMidbrain37.45
46.84
Herc1MYMedulla8.89
16.46
Herc1OLFOlfactory bulb100
100
Herc1PPons26.69
42.65
Herc1PALPallidum100
100
Herc1RHPRetrohippocampal region85.31
100
Herc1sAMYStriatum-like amygdalar nuclei100
100
Herc1STRStriatum100
100
Herc1STRdStriatum dorsal region100
100
Herc1STRvStriatum ventral region100
100
Herc1THThalamus98.83
100
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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