AutismKB 2.0

Annotation Detail for HIBADH


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Basic Information Top
Gene Symbol:HIBADH ( MGC40361,NS5ATP1 )
Gene Full Name: 3-hydroxyisobutyrate dehydrogenase
Band: 7p15.2
Quick LinksEntrez ID:11112; OMIM: 608475; Uniprot ID:3HIDH_HUMAN; ENSEMBL ID: ENSG00000106049; HGNC ID: 4907
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 body1 / 7076114
blastocyst2 / 6231932
fetus36 / 56401263
neonate1 / 3109732
infant0 / 236200 
juvenile3 / 5555653
adult159 / 193912181
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma9 / 17475515
breast (mammary gland) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma4 / 8282348
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor11 / 11936992
germ cell tumor9 / 26384534
glioma5 / 10688346
head and neck tumor5 / 13630236
kidney tumor1 / 6895914
leukemia8 / 9584283
liver tumor11 / 96359114
lung tumor5 / 10312748
lymphoma5 / 7175569
non-neoplasia2 / 9725020
normal242 / 336030772
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer10 / 10268097
retinoblastoma1 / 4635621
skin tumor12 / 12494996
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland5 / 33197150
ascites3 / 4001574
bladder13 / 29757436
blood6 / 12347848
bone5 / 7165569
bone marrow5 / 48801102
brain40 / 110098936
cervix3 / 4817162
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye16 / 21105475
heart7 / 8962678
intestine8 / 23447234
kidney44 / 211777207
larynx1 / 2414541
liver22 / 207743105
lung18 / 33697453
lymph1 / 4427022
lymph node2 / 9161021
mammary gland8 / 15327152
mouth1 / 6705214
muscle9 / 10771583
nerve0 / 157680 
ovary3 / 10205129
pancreas11 / 21481251
parathyroid3 / 20539146
pharynx2 / 4132848
pituitary gland3 / 16585180
placenta32 / 280825113
prostate20 / 189345105
salivary gland1 / 2015549
skin26 / 210574123
spleen3 / 5395255
stomach10 / 96619103
testis16 / 33044248
thymus6 / 8113173
thyroid3 / 4747363
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus15 / 23287864
vascular4 / 5178077
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7897_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
Amygdala4.23 ± 0.57
Basal Forebrain4.44 ± 0.5
Basal Part of Pons4.47 ± 0.38
Cerebellar Cortex4.45 ± 0.46
Cerebellar Nuclei4.83 ± 0.56
Claustrum4.09 ± 0.66
Epithalamus4.79 ± 0.44
Frontal Lobe4.37 ± 0.51
Globus Pallidus5.29 ± 0.49
Hypothalamus4.86 ± 0.19
Insula4.37 ± 0.53
Limbic Lobe4.09 ± 0.45
Mesencephalon4.52 ± 0.53
Myelencephalon4.37 ± 0.55
Occipital Lobe4.53 ± 0.49
Parietal Lobe4.47 ± 0.53
Pontine Tegmentum4.62 ± 0.55
Striatum4.77 ± 0.4
Subthalamus4.82 ± 0.19
Temporal Lobe4.38 ± 0.51
Thalamus4.71 ± 0.51
White Matter5.17 ± 0.5
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
HibadhCBCerebellum4.28
6.03
HibadhCTXCerebral cortex0.54
0.7
HibadhHIPHippocampal region2.28
2.53
HibadhHPFHippocampal formation1.93
2.36
HibadhHYHypothalamus1.43
1.52
HibadhLSXLateral septal complex0.18
0.44
HibadhMBMidbrain1.74
3.39
HibadhMYMedulla4.42
6.84
HibadhOLFOlfactory bulb1.9
2.86
HibadhPPons5.82
8.96
HibadhPALPallidum2.44
2.73
HibadhRHPRetrohippocampal region0.96
1.2
HibadhsAMYStriatum-like amygdalar nuclei0.53
0.37
HibadhSTRStriatum0.57
0.6
HibadhSTRdStriatum dorsal region0.29
0.26
HibadhSTRvStriatum ventral region1.94
2.09
HibadhTHThalamus0.57
0.62
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
3HIDH_HUMAN_0 0 0 0 DLGLAQDSATSTK PRIDE
3HIDH_HUMAN_0 0 0 0 SPILLGSLAHQIYR PRIDE
3HIDH_HUMAN_126 16 126 141 GSLLIDSSTIDPAVSK PRIDE
3HIDH_HUMAN_149 18 149 166 MGAVFMDAPVSGGVGAAR PRIDE
3HIDH_HUMAN_150 18 150 167 MGAVFMDAPVSGGVGAAR PRIDE
3HIDH_HUMAN_209 23 209 231 ICNNMLLAISMIGTAEAMNLGIR PRIDE
3HIDH_HUMAN_210 23 210 232 ICNNMLLAISMIGTAEAMNLGIR PRIDE
3HIDH_HUMAN_284 13 284 296 DLGLAQDSATSTK PRIDE
3HIDH_HUMAN_285 13 285 297 DLGLAQDSATSTK PRIDE
3HIDH_HUMAN_297 14 297 310 SPILLGSLAHQIYR PRIDE
3HIDH_HUMAN_298 14 298 311 SPILLGSLAHQIYR PRIDE
3HIDH_HUMAN_321 11 321 331 KDFSSVFQFLR PRIDE
3HIDH_HUMAN_321 15 321 335 DFSSVFQFLREEETF PRIDE
3HIDH_HUMAN_321 16 321 336 KDFSSVFQFLREEETF PRIDE
3HIDH_HUMAN_322 10 322 331 DFSSVFQFLR PRIDE
3HIDH_HUMAN_35 22 35 56 SVASKTPVGFIGLGNMGNPMAK PRIDE
3HIDH_HUMAN_39 17 39 55 TPVGFIGLGNMGNPMAK PRIDE
3HIDH_HUMAN_40 17 40 56 TPVGFIGLGNMGNPMAK PRIDE
3HIDH_HUMAN_7 9 7 15 LLGAASGLR PRIDE
3HIDH_HUMAN_77 19 77 95 EFQDAGEQVVSSPADVAEK PRIDE
3HIDH_HUMAN_99 23 99 121 IITMLPTSINAIEAYSGANGILK PRIDE
3HIDH_HUMAN_99 24 99 122 IITMLPTSINAIEAYSGANGILKK PRIDE
PAp00003347 16 61 76 HGYPLIIYDVFPDACK 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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