AutismKB 2.0

Annotation Detail for SHKBP1


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Basic Information Top
Gene Symbol:SHKBP1 ( Sb1 )
Gene Full Name: SH3KBP1 binding protein 1
Band: 19q13.2
Quick LinksEntrez ID:92799; OMIM: NA; Uniprot ID:SHKB1_HUMAN; ENSEMBL ID: ENSG00000160410; HGNC ID: 19214
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 body2 / 7076128
blastocyst5 / 6231980
fetus12 / 56401221
neonate5 / 31097160
infant0 / 236200 
juvenile20 / 55556359
adult142 / 193912173
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 tumor10 / 34366290
chondrosarcoma4 / 8282348
colorectal tumor2 / 11424617
esophageal tumor4 / 17290231
gastrointestinal tumor17 / 119369142
germ cell tumor22 / 26384583
glioma16 / 106883149
head and neck tumor17 / 136302124
kidney tumor9 / 68959130
leukemia30 / 95842313
liver tumor12 / 96359124
lung tumor7 / 10312767
lymphoma26 / 71755362
non-neoplasia11 / 97250113
normal218 / 336030764
ovarian tumor20 / 76682260
pancreatic tumor26 / 104616248
primitive neuroectodermal tumor of the CNS37 / 125680294
prostate cancer1 / 1026809
retinoblastoma5 / 46356107
skin tumor14 / 124949112
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites10 / 40015249
bladder3 / 29757100
blood32 / 123478259
bone5 / 7165569
bone marrow5 / 48801102
brain68 / 110098961
cervix10 / 48171207
connective tissue17 / 149255113
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus4 / 20209197
eye15 / 21105471
heart3 / 8962633
intestine22 / 23447293
kidney21 / 21177799
larynx1 / 2414541
liver12 / 20774357
lung16 / 33697447
lymph13 / 44270293
lymph node5 / 9161054
mammary gland9 / 15327158
mouth4 / 6705259
muscle2 / 10771518
nerve1 / 1576863
ovary19 / 102051186
pancreas26 / 214812121
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta21 / 28082574
prostate6 / 18934531
salivary gland1 / 2015549
skin20 / 21057494
spleen21 / 53952389
stomach4 / 9661941
testis22 / 33044266
thymus9 / 81131110
thyroid13 / 47473273
tonsil2 / 16999117
trachea1 / 5241319
umbilical cord1 / 1368073
uterus25 / 232878107
vascular7 / 51780135
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10666_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
Amygdala2.84 ± 0.93
Basal Forebrain2.71 ± 0.59
Basal Part of Pons2.32 ± 0.52
Cerebellar Cortex2.46 ± 0.72
Cerebellar Nuclei2.92 ± 0.56
Claustrum3.29 ± 0.66
Epithalamus2.57 ± 0.65
Frontal Lobe2.69 ± 0.68
Globus Pallidus3.33 ± 0.56
Hypothalamus2.65 ± 0.79
Insula2.47 ± 0.54
Limbic Lobe2.56 ± 0.66
Mesencephalon2.68 ± 0.69
Myelencephalon2.7 ± 0.66
Occipital Lobe2.36 ± 0.87
Parietal Lobe2.66 ± 0.56
Pontine Tegmentum2.79 ± 0.73
Striatum2.71 ± 0.81
Subthalamus2.81 ± 0.41
Temporal Lobe2.66 ± 0.7
Thalamus2.63 ± 0.6
White Matter3.26 ± 0.78
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Shkbp1CBCerebellum21.47
24.6
Shkbp1CTXCerebral cortex18.28
12
Shkbp1HIPHippocampal region26.46
39.87
Shkbp1HPFHippocampal formation22.91
28.57
Shkbp1HYHypothalamus18.8
12.94
Shkbp1LSXLateral septal complex11.04
7.36
Shkbp1MBMidbrain18.54
15.08
Shkbp1MYMedulla19.71
18.15
Shkbp1OLFOlfactory bulb42.73
33.52
Shkbp1PPons23.9
21.67
Shkbp1PALPallidum19.94
14.45
Shkbp1RHPRetrohippocampal region16.16
12.09
Shkbp1sAMYStriatum-like amygdalar nuclei19.11
12.36
Shkbp1STRStriatum28.06
17.76
Shkbp1STRdStriatum dorsal region23.44
14.35
Shkbp1STRvStriatum ventral region59.72
37.68
Shkbp1THThalamus13.13
9.75
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003158 21 88 108 GVHGSSLLHEAQFYGLTPLVR 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