AutismKB 2.0

Annotation Detail for ITIH4


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Basic Information Top
Gene Symbol:ITIH4 ( DKFZp686G21125,H4P,IHRP,ITIHL1,PK120 )
Gene Full Name: inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)
Band: 3p21.1
Quick LinksEntrez ID:3700; OMIM: 600564; Uniprot ID:ITIH4_HUMAN; ENSEMBL ID: ENSG00000055955,ENSG00000243696; HGNC ID: 6169
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 
blastocyst1 / 6231916
fetus34 / 56401260
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult118 / 193912160
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia4 / 9584241
liver tumor104 / 963591079
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal171 / 336030750
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
bladder10 / 29757336
blood3 / 12347824
bone0 / 716550 
bone marrow0 / 488010 
brain18 / 110098916
cervix0 / 481710 
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye5 / 21105423
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver233 / 2077431121
lung1 / 3369742
lymph0 / 442700 
lymph node1 / 9161010
mammary gland5 / 15327132
mouth1 / 6705214
muscle3 / 10771527
nerve2 / 15768126
ovary1 / 1020519
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206287_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.1
Adipocyte4.2
AdrenalCortex4.45
Adrenalgland3.6
Amygdala4.4
Appendix4.3
AtrioventricularNode4.55
BDCA4+_DentriticCells4.8
Bonemarrow4.65
BronchialEpithelialCells4.2
CD105+_Endothelial4.35
CD14+_Monocytes4.5
CD19+_BCells(neg._sel.)4.55
CD33+_Myeloid5.5
CD34+5.45
CD4+_Tcells6.65
CD56+_NKCells5.1
CD71+_EarlyErythroid4.75
CD8+_Tcells4.2
CardiacMyocytes5.5
Caudatenucleus3.8
Cerebellum3.55
CerebellumPeduncles4.85
CiliaryGanglion3
CingulateCortex4.35
Colorectaladenocarcinoma4.25
DorsalRootGanglion3.3
FetalThyroid4.15
Fetalbrain4.2
Fetalliver38.2
Fetallung41.2
GlobusPallidus3.6
Heart5.85
Hypothalamus4.6
Kidney3.5
Leukemia_chronicMyelogenousK-5623.8
Leukemia_promyelocytic-HL-603.75
Leukemialymphoblastic(MOLT-4)3.45
Liver3145.5
Lung4.75
Lymphnode3.9
Lymphoma_burkitts(Daudi)5.45
Lymphoma_burkitts(Raji)5.95
MedullaOblongata3.85
OccipitalLobe3.8
OlfactoryBulb3.35
Ovary3.6
Pancreas4.25
PancreaticIslet25.2
ParietalLobe4.6
Pituitary4.95
Placenta4.35
Pons4
PrefrontalCortex5.2
Prostate5.05
Salivarygland3.4
SkeletalMuscle5.5
Skin3.4
SmoothMuscle4.8
Spinalcord4.5
SubthalamicNucleus3.9
SuperiorCervicalGanglion5.35
TemporalLobe3.85
Testis3.6
TestisGermCell3.6
TestisIntersitial3.55
TestisLeydigCell4.2
TestisSeminiferousTubule3.65
Thalamus4.35
Thymus3.35
Thyroid5.3
Tongue4.2
Tonsil4.2
Trachea3.55
TrigeminalGanglion4.2
Uterus3.5
UterusCorpus3.8
WholeBlood4.65
Wholebrain3.65
colon4.25
pineal_day5.52
pineal_night5.2
retina5.1
small_intestine4.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15708_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
Amygdala2.22 ± 1.11
Basal Forebrain2.05 ± 0.5
Basal Part of Pons1.41 ± 0.4
Cerebellar Cortex1.81 ± 0.81
Cerebellar Nuclei2.03 ± 0.78
Claustrum2.77 ± 0.99
Epithalamus1.54 ± 0.7
Frontal Lobe1.72 ± 0.72
Globus Pallidus2.12 ± 0.47
Hypothalamus1.89 ± 0.91
Insula1.57 ± 0.51
Limbic Lobe1.77 ± 0.69
Mesencephalon2.04 ± 0.75
Myelencephalon1.87 ± 0.67
Occipital Lobe1.83 ± 0.75
Parietal Lobe1.91 ± 0.77
Pontine Tegmentum1.94 ± 0.76
Striatum2.05 ± 0.73
Subthalamus1.82 ± 0.65
Temporal Lobe1.78 ± 0.68
Thalamus1.85 ± 0.57
White Matter2.01 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Itih4CBCerebellum1.93
2.75
Itih4CTXCerebral cortex2.18
2.07
Itih4HIPHippocampal region2.78
2.65
Itih4HPFHippocampal formation2.44
2.4
Itih4HYHypothalamus0.55
0.58
Itih4LSXLateral septal complex0.12
0.09
Itih4MBMidbrain1.19
1.39
Itih4MYMedulla0.94
0.92
Itih4OLFOlfactory bulb1.78
1.26
Itih4PPons1.59
2.71
Itih4PALPallidum1.14
1.11
Itih4RHPRetrohippocampal region1.97
2.08
Itih4sAMYStriatum-like amygdalar nuclei1.4
1.12
Itih4STRStriatum0.75
0.73
Itih4STRdStriatum dorsal region0.77
0.84
Itih4STRvStriatum ventral region0.75
0.49
Itih4THThalamus4.6
5.44
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00024029 13 99 111 AEAQAQYSAAVAK 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