AutismKB 2.0

Annotation Detail for IKBKAP


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Basic Information Top
Gene Symbol:IKBKAP ( DKFZp781H1425,DYS,ELP1,FD,FLJ12497,IKAP,IKI3,TOT1 )
Gene Full Name: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
Band: 9q31
Quick LinksEntrez ID:8518; OMIM: 603722; Uniprot ID:ELP1_HUMAN; ENSEMBL ID: ENSG00000070061; HGNC ID:
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 body7 / 7076198
blastocyst5 / 6231980
fetus53 / 56401293
neonate0 / 310970 
infant1 / 2362042
juvenile4 / 5555671
adult126 / 193912164
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor7 / 12794547
bladder carcinoma0 / 174750 
breast (mammary gland) tumor9 / 9417895
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor29 / 263845109
glioma1 / 1068839
head and neck tumor12 / 13630288
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor8 / 9635983
lung tumor6 / 10312758
lymphoma3 / 7175541
non-neoplasia2 / 9725020
normal210 / 336030762
ovarian tumor5 / 7668265
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer7 / 10268068
retinoblastoma4 / 4635686
skin tumor3 / 12494924
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland14 / 33197421
ascites2 / 4001549
bladder3 / 29757100
blood1 / 1234788
bone4 / 7165555
bone marrow0 / 488010 
brain96 / 110098987
cervix0 / 481710 
connective tissue5 / 14925533
ear1 / 1621261
embryonic tissue16 / 21572274
esophagus0 / 202090 
eye15 / 21105471
heart5 / 8962655
intestine3 / 23447212
kidney5 / 21177723
larynx1 / 2414541
liver10 / 20774348
lung27 / 33697480
lymph0 / 442700 
lymph node2 / 9161021
mammary gland14 / 15327191
mouth4 / 6705259
muscle12 / 107715111
nerve0 / 157680 
ovary14 / 102051137
pancreas9 / 21481241
parathyroid3 / 20539146
pharynx5 / 41328120
pituitary gland1 / 1658560
placenta5 / 28082517
prostate10 / 18934552
salivary gland0 / 201550 
skin8 / 21057437
spleen0 / 539520 
stomach4 / 9661941
testis28 / 33044284
thymus1 / 8113112
thyroid3 / 4747363
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus21 / 23287890
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202490_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.85
Adipocyte7.15
AdrenalCortex9.85
Adrenalgland6.7
Amygdala7.55
Appendix9.1
AtrioventricularNode8
BDCA4+_DentriticCells7.2
Bonemarrow7.95
BronchialEpithelialCells7.1
CD105+_Endothelial7.35
CD14+_Monocytes7.9
CD19+_BCells(neg._sel.)7.65
CD33+_Myeloid8.85
CD34+8.8
CD4+_Tcells8.35
CD56+_NKCells8.25
CD71+_EarlyErythroid7.1
CD8+_Tcells6.45
CardiacMyocytes11.25
Caudatenucleus6.8
Cerebellum6.15
CerebellumPeduncles9.05
CiliaryGanglion6.4
CingulateCortex7.8
Colorectaladenocarcinoma7.45
DorsalRootGanglion7.2
FetalThyroid7.5
Fetalbrain7.2
Fetalliver6.8
Fetallung5.6
GlobusPallidus6.15
Heart11.05
Hypothalamus7.8
Kidney6.8
Leukemia_chronicMyelogenousK-5626.6
Leukemia_promyelocytic-HL-606.6
Leukemialymphoblastic(MOLT-4)5.8
Liver11.45
Lung8.05
Lymphnode5.95
Lymphoma_burkitts(Daudi)9.85
Lymphoma_burkitts(Raji)11.8
MedullaOblongata6.65
OccipitalLobe6.55
OlfactoryBulb5.75
Ovary6.05
Pancreas6.2
PancreaticIslet8
ParietalLobe8.6
Pituitary8.7
Placenta7.3
Pons7.35
PrefrontalCortex8.9
Prostate8.55
Salivarygland6.3
SkeletalMuscle11.85
Skin6.65
SmoothMuscle8.35
Spinalcord7.85
SubthalamicNucleus7.1
SuperiorCervicalGanglion11.45
TemporalLobe7.25
Testis6.35
TestisGermCell5.9
TestisIntersitial6.4
TestisLeydigCell7.7
TestisSeminiferousTubule6.3
Thalamus7.85
Thymus5.55
Thyroid9.1
Tongue8.2
Tonsil7.5
Trachea6.15
TrigeminalGanglion9.45
Uterus5.9
UterusCorpus7.25
WholeBlood8
Wholebrain5.95
colon7.35
pineal_day8.96
pineal_night8.76
retina8.95
small_intestine7.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13245_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
Amygdala7.16 ± 0.34
Basal Forebrain7.11 ± 0.31
Basal Part of Pons7.22 ± 0.25
Cerebellar Cortex7.45 ± 0.12
Cerebellar Nuclei7.13 ± 0.46
Claustrum7.17 ± 0.34
Epithalamus7.06 ± 0.42
Frontal Lobe7.21 ± 0.27
Globus Pallidus6.88 ± 0.21
Hypothalamus7.42 ± 0.26
Insula7.22 ± 0.32
Limbic Lobe7.12 ± 0.26
Mesencephalon7.16 ± 0.3
Myelencephalon7.15 ± 0.3
Occipital Lobe7.23 ± 0.29
Parietal Lobe7.22 ± 0.27
Pontine Tegmentum7.23 ± 0.33
Striatum6.82 ± 0.21
Subthalamus7.03 ± 0.41
Temporal Lobe7.34 ± 0.24
Thalamus7.16 ± 0.29
White Matter7.64 ± 0.11
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
IkbkapCBCerebellum25.25
27.33
IkbkapCTXCerebral cortex65.89
48.9
IkbkapHIPHippocampal region56
74.89
IkbkapHPFHippocampal formation56.85
62
IkbkapHYHypothalamus26.7
21.15
IkbkapLSXLateral septal complex21.89
15.63
IkbkapMBMidbrain32.84
30.88
IkbkapMYMedulla37.75
39.72
IkbkapOLFOlfactory bulb48.78
39.81
IkbkapPPons33.32
37.34
IkbkapPALPallidum23.54
21.95
IkbkapRHPRetrohippocampal region57.99
46.41
IkbkapsAMYStriatum-like amygdalar nuclei23.46
16.49
IkbkapSTRStriatum18.78
14.36
IkbkapSTRdStriatum dorsal region16.87
13.67
IkbkapSTRvStriatum ventral region23.15
16.16
IkbkapTHThalamus27.98
23.73
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ELP1_HUMAN_1258 11 1258 1268 AFEDTLQLMER PRIDE
ELP1_HUMAN_714 9 714 722 GNLEVVHHR PRIDE
PAp00000990 12 453 464 CGDCPSADPTVK 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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