AutismKB 2.0

Annotation Detail for SETD1A


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Basic Information Top
Gene Symbol:SETD1A ( KIAA0339,KMT2F,Set1,Set1A )
Gene Full Name: SET domain containing 1A
Band: 16p11.2
Quick LinksEntrez ID:9739; OMIM: 611052; Uniprot ID:SET1A_HUMAN; ENSEMBL ID: ENSG00000099381; HGNC ID: 29010
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 body2 / 7076128
blastocyst2 / 6231932
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult53 / 193912127
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor14 / 94178148
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor6 / 26384522
glioma4 / 10688337
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal67 / 336030719
ovarian tumor5 / 7668265
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor12 / 12494996
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain5 / 11009894
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye8 / 21105437
heart1 / 8962611
intestine10 / 23447242
kidney2 / 2117779
larynx1 / 2414541
liver0 / 2077430 
lung8 / 33697423
lymph0 / 442700 
lymph node10 / 91610109
mammary gland17 / 153271110
mouth0 / 670520 
muscle1 / 1077159
nerve1 / 1576863
ovary6 / 10205158
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate0 / 1893450 
salivary gland0 / 201550 
skin19 / 21057490
spleen0 / 539520 
stomach2 / 9661920
testis6 / 33044218
thymus0 / 811310 
thyroid0 / 474730 
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213202_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.05
Adipocyte8.8
AdrenalCortex16.1
Adrenalgland9.5
Amygdala9.3
Appendix9.95
AtrioventricularNode22.25
BDCA4+_DentriticCells20.85
Bonemarrow11.15
BronchialEpithelialCells8.7
CD105+_Endothelial21.45
CD14+_Monocytes18.35
CD19+_BCells(neg._sel.)13.3
CD33+_Myeloid14.25
CD34+47.05
CD4+_Tcells15.4
CD56+_NKCells20.95
CD71+_EarlyErythroid12.95
CD8+_Tcells14.6
CardiacMyocytes12.45
Caudatenucleus12.95
Cerebellum8.85
CerebellumPeduncles14.15
CiliaryGanglion17.4
CingulateCortex12.4
Colorectaladenocarcinoma9.5
DorsalRootGanglion15.65
FetalThyroid19.75
Fetalbrain13.2
Fetalliver9.2
Fetallung8.45
GlobusPallidus18.7
Heart14.95
Hypothalamus9.1
Kidney9.8
Leukemia_chronicMyelogenousK-56210.9
Leukemia_promyelocytic-HL-6011.55
Leukemialymphoblastic(MOLT-4)9.95
Liver17.9
Lung12.15
Lymphnode11.05
Lymphoma_burkitts(Daudi)29.15
Lymphoma_burkitts(Raji)15.15
MedullaOblongata8.15
OccipitalLobe9.4
OlfactoryBulb7.65
Ovary6.95
Pancreas7.9
PancreaticIslet17.5
ParietalLobe11.4
Pituitary12.05
Placenta14.4
Pons10.45
PrefrontalCortex10.15
Prostate10.5
Salivarygland8.05
SkeletalMuscle15.55
Skin15.75
SmoothMuscle10.35
Spinalcord10.4
SubthalamicNucleus18.05
SuperiorCervicalGanglion18.5
TemporalLobe12.85
Testis15
TestisGermCell9.35
TestisIntersitial9.25
TestisLeydigCell17.1
TestisSeminiferousTubule12.7
Thalamus18.45
Thymus8.1
Thyroid12.65
Tongue11.3
Tonsil10.25
Trachea7.65
TrigeminalGanglion10.05
Uterus7.25
UterusCorpus8.2
WholeBlood9.9
Wholebrain7.55
colon9.4
pineal_day12.04
pineal_night11.82
retina11.875
small_intestine8.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10043_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
Amygdala3.47 ± 0.53
Basal Forebrain3.25 ± 0.28
Basal Part of Pons3.46 ± 0.89
Cerebellar Cortex3.59 ± 0.5
Cerebellar Nuclei3.3 ± 0.33
Claustrum3.52 ± 1.19
Epithalamus2.92 ± 0.5
Frontal Lobe3.08 ± 0.62
Globus Pallidus3.49 ± 0.57
Hypothalamus2.9 ± 0.67
Insula3.13 ± 0.66
Limbic Lobe3.42 ± 0.76
Mesencephalon3.22 ± 0.6
Myelencephalon3.28 ± 0.72
Occipital Lobe3.66 ± 0.66
Parietal Lobe3.25 ± 0.73
Pontine Tegmentum3.22 ± 0.63
Striatum3.21 ± 0.58
Subthalamus3.06 ± 0.52
Temporal Lobe3.28 ± 0.71
Thalamus3.18 ± 0.64
White Matter3.44 ± 0.59
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Setd1aHYHypothalamus87.52
63.33
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002098 14 1506 1519 EKDKYLDVCPVSAR 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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