AutismKB 2.0

Annotation Detail for CIITA


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Basic Information Top
Gene Symbol:CIITA ( C2TA,CIITAIV,MHC2TA,NLRA )
Gene Full Name: class II, major histocompatibility complex, transactivator
Band: 16p13.13
Quick LinksEntrez ID:4261; OMIM: 600005; Uniprot ID:C2TA_HUMAN; ENSEMBL ID: ENSG00000179583; HGNC ID: 7067
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 body0 / 707610 
blastocyst0 / 623190 
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult22 / 193912111
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 tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor4 / 26384515
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia8 / 9584283
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma7 / 7175597
non-neoplasia4 / 9725041
normal55 / 336030716
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
ascites0 / 400150 
bladder0 / 297570 
blood8 / 12347864
bone0 / 716550 
bone marrow2 / 4880140
brain3 / 11009892
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine5 / 23447221
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung4 / 33697411
lymph6 / 44270135
lymph node30 / 91610327
mammary gland4 / 15327126
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach1 / 9661910
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211884_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.5
Adipocyte4.25
AdrenalCortex4.8
Adrenalgland3.65
Amygdala4.45
Appendix4.7
AtrioventricularNode3.7
BDCA4+_DentriticCells5.5
Bonemarrow4.25
BronchialEpithelialCells4.3
CD105+_Endothelial4.4
CD14+_Monocytes4.6
CD19+_BCells(neg._sel.)4.95
CD33+_Myeloid5.55
CD34+5.6
CD4+_Tcells4.75
CD56+_NKCells5.2
CD71+_EarlyErythroid4.1
CD8+_Tcells4.25
CardiacMyocytes5.5
Caudatenucleus3.9
Cerebellum3.55
CerebellumPeduncles5
CiliaryGanglion3.45
CingulateCortex4.5
Colorectaladenocarcinoma4.3
DorsalRootGanglion3.55
FetalThyroid4.2
Fetalbrain4.3
Fetalliver3.85
Fetallung3.45
GlobusPallidus3.2
Heart5.5
Hypothalamus4.65
Kidney3.6
Leukemia_chronicMyelogenousK-5623.9
Leukemia_promyelocytic-HL-603.85
Leukemialymphoblastic(MOLT-4)3.45
Liver5.95
Lung4.75
Lymphnode3.7
Lymphoma_burkitts(Daudi)5.6
Lymphoma_burkitts(Raji)6.1
MedullaOblongata4
OccipitalLobe3.9
OlfactoryBulb3.45
Ovary3.1
Pancreas3.5
PancreaticIslet4.65
ParietalLobe4.65
Pituitary5.05
Placenta4.35
Pons4.25
PrefrontalCortex5.4
Prostate5
Salivarygland4.1
SkeletalMuscle5.4
Skin3.55
SmoothMuscle4.9
Spinalcord4.65
SubthalamicNucleus4
SuperiorCervicalGanglion5.45
TemporalLobe4.1
Testis3.7
TestisGermCell3.6
TestisIntersitial3.65
TestisLeydigCell4.3
TestisSeminiferousTubule3.7
Thalamus4.45
Thymus3.4
Thyroid5.35
Tongue4.35
Tonsil4.25
Trachea4.35
TrigeminalGanglion4.7
Uterus3.5
UterusCorpus4.05
WholeBlood4.7
Wholebrain3.6
colon4.35
pineal_day5.38
pineal_night5.26
retina5.25
small_intestine4.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P33384
  • 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
Amygdala2.44 ± 0.97
Basal Forebrain2.07 ± 0.2
Basal Part of Pons1.77 ± 0.39
Cerebellar Cortex1.81 ± 0.67
Cerebellar Nuclei2.27 ± 0.68
Claustrum2.87 ± 0.8
Epithalamus1.71 ± 0.69
Frontal Lobe1.86 ± 0.61
Globus Pallidus2.76 ± 0.4
Hypothalamus2.16 ± 0.66
Insula1.9 ± 0.51
Limbic Lobe2.01 ± 0.58
Mesencephalon2.16 ± 0.68
Myelencephalon2.06 ± 0.66
Occipital Lobe2.1 ± 0.51
Parietal Lobe2.04 ± 0.74
Pontine Tegmentum2.04 ± 0.64
Striatum2.23 ± 0.66
Subthalamus2.21 ± 0.68
Temporal Lobe1.91 ± 0.59
Thalamus2.01 ± 0.56
White Matter2.57 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
C2taCBCerebellum2.58
3.15
C2taCTXCerebral cortex1.83
1.57
C2taHIPHippocampal region6.83
9.01
C2taHPFHippocampal formation4.91
5.77
C2taHYHypothalamus0.22
0.23
C2taLSXLateral septal complex0
0
C2taMBMidbrain2.93
3.95
C2taMYMedulla1.36
1.59
C2taOLFOlfactory bulb3.78
2.53
C2taPPons1.39
1.7
C2taPALPallidum0.26
0.19
C2taRHPRetrohippocampal region1.29
0.89
C2tasAMYStriatum-like amygdalar nuclei1.1
2.37
C2taSTRStriatum0.58
0.54
C2taSTRdStriatum dorsal region0.53
0.41
C2taSTRvStriatum ventral region0.53
0.38
C2taTHThalamus1.9
2.18
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
C2TA_HUMAN_316 15 316 330 TSPTQCPAAGEVSNK PRIDE
C2TA_HUMAN_377 14 377 390 SLERELATPDWAER PRIDE
C2TA_HUMAN_381 10 381 390 ELATPDWAER PRIDE
C2TA_HUMAN_490 4 490 493 RPDR PRIDE
C2TA_HUMAN_648 15 648 662 AALDSPPGALAELAK PRIDE
C2TA_HUMAN_732 11 732 742 ELPQYLALTPR PRIDE
C2TA_HUMAN_907 8 907 914 LLQAAEEK PRIDE
C2TA_HUMAN_915 7 915 921 FTIEPFK PRIDE

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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