AutismKB 2.0

Annotation Detail for HUWE1


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Basic Information Top
Gene Symbol:HUWE1 ( ARF-BP1,HECTH9,HSPC272,Ib772,KIAA0312,LASU1,MULE,UREB1 )
Gene Full Name: HECT, UBA and WWE domain containing 1
Band: Xp11.22
Quick LinksEntrez ID:10075; OMIM: 300697; Uniprot ID:HUWE1_HUMAN; ENSEMBL ID: ENSG00000086758; HGNC ID: 30892
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
blastocyst16 / 62319256
fetus109 / 564012193
neonate4 / 31097128
infant2 / 2362084
juvenile8 / 55556143
adult613 / 1939121316
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma8 / 17475457
breast (mammary gland) tumor23 / 94178244
cervical tumor13 / 34366378
chondrosarcoma18 / 82823217
colorectal tumor95 / 114246831
esophageal tumor2 / 17290115
gastrointestinal tumor7 / 11936958
germ cell tumor53 / 263845200
glioma11 / 106883102
head and neck tumor60 / 136302440
kidney tumor15 / 68959217
leukemia31 / 95842323
liver tumor12 / 96359124
lung tumor14 / 103127135
lymphoma16 / 71755222
non-neoplasia10 / 97250102
normal568 / 3360307169
ovarian tumor15 / 76682195
pancreatic tumor15 / 104616143
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer58 / 102680564
retinoblastoma9 / 46356194
skin tumor18 / 124949144
soft tissue/muscle tissue tumor13 / 125191103
uterine tumor16 / 90257177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites2 / 4001549
bladder9 / 29757302
blood28 / 123478226
bone10 / 71655139
bone marrow2 / 4880140
brain169 / 1100989153
cervix13 / 48171269
connective tissue10 / 14925566
ear7 / 16212431
embryonic tissue40 / 215722185
esophagus2 / 2020998
eye29 / 211054137
heart9 / 89626100
intestine108 / 234472460
kidney31 / 211777146
larynx34 / 241451408
liver27 / 207743129
lung91 / 336974270
lymph13 / 44270293
lymph node25 / 91610272
mammary gland48 / 153271313
mouth20 / 67052298
muscle17 / 107715157
nerve1 / 1576863
ovary20 / 102051195
pancreas23 / 214812107
parathyroid2 / 2053997
pharynx8 / 41328193
pituitary gland14 / 16585844
placenta62 / 280825220
prostate66 / 189345348
salivary gland0 / 201550 
skin29 / 210574137
spleen4 / 5395274
stomach1 / 9661910
testis52 / 330442157
thymus12 / 81131147
thyroid6 / 47473126
tonsil1 / 1699958
trachea6 / 52413114
umbilical cord12 / 13680877
uterus33 / 232878141
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214673_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.75
Adipocyte6.9
AdrenalCortex9.9
Adrenalgland7
Amygdala7.45
Appendix7.25
AtrioventricularNode6.4
BDCA4+_DentriticCells7.5
Bonemarrow7.25
BronchialEpithelialCells6.8
CD105+_Endothelial7.1
CD14+_Monocytes7.55
CD19+_BCells(neg._sel.)7.4
CD33+_Myeloid8.6
CD34+8.35
CD4+_Tcells7.05
CD56+_NKCells8.35
CD71+_EarlyErythroid6.6
CD8+_Tcells6.4
CardiacMyocytes9.15
Caudatenucleus6.25
Cerebellum5.75
CerebellumPeduncles8.2
CiliaryGanglion4.95
CingulateCortex7.5
Colorectaladenocarcinoma7
DorsalRootGanglion5.55
FetalThyroid6.85
Fetalbrain7
Fetalliver6.2
Fetallung5.2
GlobusPallidus5.2
Heart9.95
Hypothalamus7.7
Kidney6.15
Leukemia_chronicMyelogenousK-5626.35
Leukemia_promyelocytic-HL-606.2
Leukemialymphoblastic(MOLT-4)5.7
Liver10.25
Lung7.15
Lymphnode6.05
Lymphoma_burkitts(Daudi)9
Lymphoma_burkitts(Raji)10.05
MedullaOblongata6.45
OccipitalLobe6.35
OlfactoryBulb5.55
Ovary4.75
Pancreas5.7
PancreaticIslet7.5
ParietalLobe7.4
Pituitary8.25
Placenta7.35
Pons6.8
PrefrontalCortex8.9
Prostate7.6
Salivarygland6
SkeletalMuscle9.55
Skin5.65
SmoothMuscle7.9
Spinalcord7.55
SubthalamicNucleus6.4
SuperiorCervicalGanglion10.9
TemporalLobe6.65
Testis6.1
TestisGermCell5.9
TestisIntersitial5.85
TestisLeydigCell7
TestisSeminiferousTubule6
Thalamus7.1
Thymus5.45
Thyroid8.9
Tongue7.05
Tonsil6.85
Trachea5.9
TrigeminalGanglion7.05
Uterus5.6
UterusCorpus6.45
WholeBlood7.7
Wholebrain5.6
colon7.1
pineal_day8.76
pineal_night8.68
retina8.65
small_intestine6.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P932016
  • 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
Amygdala9.19 ± 0.26
Basal Forebrain9.33 ± 0.09
Basal Part of Pons9.31 ± 0.21
Cerebellar Cortex9.13 ± 0.21
Cerebellar Nuclei9.26 ± 0.21
Claustrum9.35 ± 0.35
Epithalamus9.11 ± 0.32
Frontal Lobe9.13 ± 0.24
Globus Pallidus9.45 ± 0.24
Hypothalamus9.26 ± 0.15
Insula9.06 ± 0.22
Limbic Lobe9.28 ± 0.24
Mesencephalon9.23 ± 0.19
Myelencephalon9.18 ± 0.23
Occipital Lobe9.39 ± 0.18
Parietal Lobe9.26 ± 0.19
Pontine Tegmentum9.18 ± 0.28
Striatum9.28 ± 0.24
Subthalamus9.17 ± 0.24
Temporal Lobe9.17 ± 0.19
Thalamus9.17 ± 0.19
White Matter9.51 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Huwe1CBCerebellum100
100
Huwe1CTXCerebral cortex100
100
Huwe1HIPHippocampal region100
100
Huwe1HPFHippocampal formation100
100
Huwe1HYHypothalamus100
100
Huwe1LSXLateral septal complex100
100
Huwe1MBMidbrain100
100
Huwe1MYMedulla100
100
Huwe1OLFOlfactory bulb100
100
Huwe1PPons100
100
Huwe1PALPallidum100
100
Huwe1RHPRetrohippocampal region100
100
Huwe1sAMYStriatum-like amygdalar nuclei100
100
Huwe1STRStriatum100
100
Huwe1STRdStriatum dorsal region100
100
Huwe1STRvStriatum ventral region100
100
Huwe1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
HUWE1_HUMAN_1214 28 1214 1241 VPHSLDLSSPNMANTVNAALKPLETLSR PRIDE
HUWE1_HUMAN_1556 10 1556 1565 QPNPPLILQR PRIDE
HUWE1_HUMAN_2031 26 2031 2056 ELAQNASSDTPMDPVTFIQTLPSDLR PRIDE
HUWE1_HUMAN_2058 26 2058 2083 SVLEDMEDSVLAVMPPDIAAEAQALR PRIDE
HUWE1_HUMAN_2570 10 2570 2579 QPNPPLILQR PRIDE
HUWE1_HUMAN_2579 22 2579 2600 LLGPSAAADILQLSSSLPLQSR PRIDE
HUWE1_HUMAN_364 15 364 378 AIAMSLGQDIPMDQR PRIDE
HUWE1_HUMAN_3788 17 3788 3804 QQQAATSESSQSEASVR PRIDE
HUWE1_HUMAN_70 16 70 85 SHHAASTTTAPTPAAR PRIDE
PAp00002608 22 776 797 FVESILSNNTTDDHCQEFVNQK 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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