AutismKB 2.0

Annotation Detail for IRF2BP2


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Basic Information Top
Gene Symbol:IRF2BP2 ( MGC72189 )
Gene Full Name: interferon regulatory factor 2 binding protein 2
Band: 1q42.3
Quick LinksEntrez ID:359948; OMIM: NA; Uniprot ID:I2BP2_HUMAN; ENSEMBL ID: ENSG00000168264; HGNC ID: 21729
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 body4 / 7076156
blastocyst3 / 6231948
fetus74 / 564012131
neonate0 / 310970 
infant4 / 23620169
juvenile2 / 5555635
adult192 / 193912199
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) tumor5 / 9417853
cervical tumor4 / 34366116
chondrosarcoma17 / 82823205
colorectal tumor17 / 114246148
esophageal tumor1 / 1729057
gastrointestinal tumor10 / 11936983
germ cell tumor25 / 26384594
glioma13 / 106883121
head and neck tumor17 / 136302124
kidney tumor4 / 6895958
leukemia17 / 95842177
liver tumor6 / 9635962
lung tumor6 / 10312758
lymphoma3 / 7175541
non-neoplasia7 / 9725071
normal331 / 336030798
ovarian tumor11 / 76682143
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer4 / 10268038
retinoblastoma3 / 4635664
skin tumor6 / 12494948
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor16 / 90257177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue7 / 13106534
adrenal gland2 / 3319760
ascites2 / 4001549
bladder3 / 29757100
blood14 / 123478113
bone7 / 7165597
bone marrow6 / 48801122
brain72 / 110098965
cervix4 / 4817183
connective tissue21 / 149255140
ear2 / 16212123
embryonic tissue12 / 21572255
esophagus1 / 2020949
eye19 / 21105490
heart10 / 89626111
intestine35 / 234472149
kidney31 / 211777146
larynx1 / 2414541
liver18 / 20774386
lung40 / 336974118
lymph1 / 4427022
lymph node14 / 91610152
mammary gland16 / 153271104
mouth7 / 67052104
muscle5 / 10771546
nerve1 / 1576863
ovary15 / 102051146
pancreas35 / 214812162
parathyroid2 / 2053997
pharynx6 / 41328145
pituitary gland0 / 165850 
placenta21 / 28082574
prostate15 / 18934579
salivary gland1 / 2015549
skin13 / 21057461
spleen0 / 539520 
stomach15 / 96619155
testis18 / 33044254
thymus2 / 8113124
thyroid3 / 4747363
tonsil1 / 1699958
trachea2 / 5241338
umbilical cord0 / 136800 
uterus25 / 232878107
vascular8 / 51780154
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P154214
  • 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
Amygdala8.17 ± 0.37
Basal Forebrain8.48 ± 0.25
Basal Part of Pons8.52 ± 0.26
Cerebellar Cortex8.64 ± 0.11
Cerebellar Nuclei8.67 ± 0.23
Claustrum7.94 ± 0.32
Epithalamus9.13 ± 0.42
Frontal Lobe8.34 ± 0.3
Globus Pallidus8.7 ± 0.31
Hypothalamus8.56 ± 0.38
Insula8.29 ± 0.15
Limbic Lobe8.26 ± 0.36
Mesencephalon8.45 ± 0.32
Myelencephalon8.42 ± 0.29
Occipital Lobe8.7 ± 0.3
Parietal Lobe8.41 ± 0.28
Pontine Tegmentum8.38 ± 0.25
Striatum8.35 ± 0.36
Subthalamus8.45 ± 0.17
Temporal Lobe8.29 ± 0.28
Thalamus8.4 ± 0.24
White Matter9.61 ± 0.2
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00004825 16 513 528 LEDTHFVQCPSVPSHK 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