AutismKB 2.0

Annotation Detail for HEBP2


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Basic Information Top
Gene Symbol:HEBP2 ( C6ORF34B,C6orf34,KIAA1244,PP23,SOUL )
Gene Full Name: heme binding protein 2
Band: 6q24.1
Quick LinksEntrez ID:23593; OMIM: 605825; Uniprot ID:HEBP2_HUMAN; ENSEMBL ID: ENSG00000051620; HGNC ID: 15716
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 body3 / 7076142
blastocyst0 / 623190 
fetus7 / 56401212
neonate0 / 310970 
infant3 / 23620127
juvenile2 / 5555635
adult137 / 193912170
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) tumor8 / 9417884
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor5 / 26384518
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia9 / 9584293
liver tumor3 / 9635931
lung tumor5 / 10312748
lymphoma12 / 71755167
non-neoplasia4 / 9725041
normal111 / 336030733
ovarian tumor6 / 7668278
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer42 / 102680409
retinoblastoma3 / 4635664
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood5 / 12347840
bone3 / 7165541
bone marrow6 / 48801122
brain7 / 11009896
cervix0 / 481710 
connective tissue2 / 14925513
ear1 / 1621261
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye18 / 21105485
heart2 / 8962622
intestine7 / 23447229
kidney4 / 21177718
larynx0 / 241450 
liver4 / 20774319
lung13 / 33697438
lymph12 / 44270271
lymph node2 / 9161021
mammary gland11 / 15327171
mouth0 / 670520 
muscle6 / 10771555
nerve1 / 1576863
ovary7 / 10205168
pancreas23 / 214812107
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta11 / 28082539
prostate54 / 189345285
salivary gland0 / 201550 
skin6 / 21057428
spleen0 / 539520 
stomach5 / 9661951
testis2 / 3304426
thymus2 / 8113124
thyroid1 / 4747321
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203430_at
Cell line Expression level Expression bar
721_B_lymphoblasts89.45
Adipocyte1082.6
AdrenalCortex27.5
Adrenalgland80.05
Amygdala18.35
Appendix52.7
AtrioventricularNode9.45
BDCA4+_DentriticCells348.5
Bonemarrow51.1
BronchialEpithelialCells521.95
CD105+_Endothelial161.3
CD14+_Monocytes419.7
CD19+_BCells(neg._sel.)426.55
CD33+_Myeloid615.65
CD34+322.35
CD4+_Tcells75
CD56+_NKCells157.6
CD71+_EarlyErythroid9.35
CD8+_Tcells62.55
CardiacMyocytes97.15
Caudatenucleus9.1
Cerebellum23.9
CerebellumPeduncles28.45
CiliaryGanglion60.05
CingulateCortex23.7
Colorectaladenocarcinoma127.95
DorsalRootGanglion53.25
FetalThyroid94.15
Fetalbrain32.2
Fetalliver11.3
Fetallung86.15
GlobusPallidus5.15
Heart231.9
Hypothalamus78.55
Kidney54.5
Leukemia_chronicMyelogenousK-56288.05
Leukemia_promyelocytic-HL-606.3
Leukemialymphoblastic(MOLT-4)23.75
Liver302
Lung214.9
Lymphnode25.55
Lymphoma_burkitts(Daudi)11.25
Lymphoma_burkitts(Raji)8.2
MedullaOblongata9.25
OccipitalLobe8.7
OlfactoryBulb26.1
Ovary26.3
Pancreas156.8
PancreaticIslet133.95
ParietalLobe7.9
Pituitary107.25
Placenta241.9
Pons7.2
PrefrontalCortex15.85
Prostate974.15
Salivarygland88.7
SkeletalMuscle72.1
Skin84.75
SmoothMuscle333.7
Spinalcord21.5
SubthalamicNucleus8.25
SuperiorCervicalGanglion13.05
TemporalLobe7
Testis12.35
TestisGermCell14.9
TestisIntersitial7.95
TestisLeydigCell11.4
TestisSeminiferousTubule11.1
Thalamus112.15
Thymus119
Thyroid343.55
Tongue303.4
Tonsil46.4
Trachea193.4
TrigeminalGanglion24.4
Uterus136.75
UterusCorpus11.65
WholeBlood355.65
Wholebrain16.55
colon367.55
pineal_day234.7
pineal_night197.76
retina99
small_intestine207.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_617_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
Amygdala5.88 ± 0.38
Basal Forebrain5.96 ± 0.27
Basal Part of Pons5.41 ± 0.27
Cerebellar Cortex6.68 ± 0.28
Cerebellar Nuclei6.49 ± 0.42
Claustrum5.62 ± 0.47
Epithalamus6.65 ± 0.23
Frontal Lobe5.96 ± 0.52
Globus Pallidus6.96 ± 0.69
Hypothalamus6.3 ± 0.31
Insula6.09 ± 0.4
Limbic Lobe5.99 ± 0.53
Mesencephalon6.29 ± 0.44
Myelencephalon6.2 ± 0.56
Occipital Lobe6.29 ± 0.57
Parietal Lobe6.17 ± 0.57
Pontine Tegmentum6.53 ± 0.49
Striatum6.58 ± 0.82
Subthalamus6.07 ± 0.31
Temporal Lobe6.05 ± 0.47
Thalamus7.11 ± 0.54
White Matter5.93 ± 0.58
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hebp2CBCerebellum3.91
6.47
Hebp2CTXCerebral cortex11.29
7.79
Hebp2HIPHippocampal region4.49
4
Hebp2HPFHippocampal formation7.01
5.93
Hebp2HYHypothalamus0.22
0.36
Hebp2LSXLateral septal complex0.58
0.47
Hebp2MBMidbrain0.77
1.27
Hebp2MYMedulla5.38
11.61
Hebp2OLFOlfactory bulb5.28
4.1
Hebp2PPons1.39
2.54
Hebp2PALPallidum0.42
0.46
Hebp2RHPRetrohippocampal region13
10
Hebp2sAMYStriatum-like amygdalar nuclei2.51
1.7
Hebp2STRStriatum3.02
1.98
Hebp2STRdStriatum dorsal region4.11
2.75
Hebp2STRvStriatum ventral region0.47
0.27
Hebp2THThalamus0.62
1.08
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
HEBP2_HUMAN_132 8 132 139 AEMTVFVR PRIDE
HEBP2_HUMAN_140 10 140 149 SFDGFSSAQK PRIDE
HEBP2_HUMAN_141 10 141 150 SFDGFSSAQK PRIDE
HEBP2_HUMAN_150 13 150 162 NQEQLLTLASILR PRIDE
HEBP2_HUMAN_172 12 172 183 VYYTAGYNSPVK PRIDE
HEBP2_HUMAN_173 12 173 184 VYYTAGYNSPVK PRIDE
HEBP2_HUMAN_188 9 188 196 NNEVWLIQK PRIDE
HEBP2_HUMAN_26 15 26 40 APEDAGPQPGSYEIR PRIDE
PAp00063848 15 27 41 APEDAGPQPGSYEIR 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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