AutismKB 2.0

Annotation Detail for ATP5H


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Basic Information Top
Gene Symbol:ATP5H ( ATPQ )
Gene Full Name: ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d
Band: 17q25.1
Quick LinksEntrez ID:10476; OMIM: NA; Uniprot ID:ATP5H_HUMAN; ENSEMBL ID: ENSG00000167863; HGNC ID: 845
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
blastocyst4 / 6231964
fetus33 / 56401258
neonate5 / 31097160
infant1 / 2362042
juvenile2 / 5555635
adult170 / 193912187
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor11 / 11936992
germ cell tumor3 / 26384511
glioma8 / 10688374
head and neck tumor7 / 13630251
kidney tumor5 / 6895972
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor9 / 10312787
lymphoma2 / 7175527
non-neoplasia1 / 9725010
normal178 / 336030752
ovarian tumor18 / 76682234
pancreatic tumor12 / 104616114
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer15 / 102680146
retinoblastoma0 / 463560 
skin tumor11 / 12494988
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood5 / 12347840
bone2 / 7165527
bone marrow6 / 48801122
brain41 / 110098937
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye16 / 21105475
heart9 / 89626100
intestine10 / 23447242
kidney14 / 21177766
larynx0 / 241450 
liver3 / 20774314
lung30 / 33697489
lymph2 / 4427045
lymph node3 / 9161032
mammary gland10 / 15327165
mouth1 / 6705214
muscle14 / 107715129
nerve0 / 157680 
ovary19 / 102051186
pancreas22 / 214812102
parathyroid7 / 20539340
pharynx1 / 4132824
pituitary gland3 / 16585180
placenta23 / 28082581
prostate24 / 189345126
salivary gland0 / 201550 
skin16 / 21057475
spleen1 / 5395218
stomach11 / 96619113
testis5 / 33044215
thymus1 / 8113112
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord5 / 13680365
uterus13 / 23287855
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210149_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1663.45
Adipocyte914.4
AdrenalCortex305.9
Adrenalgland390.3
Amygdala690.9
Appendix217.15
AtrioventricularNode163.05
BDCA4+_DentriticCells1137.45
Bonemarrow319.95
BronchialEpithelialCells1190.65
CD105+_Endothelial1082.7
CD14+_Monocytes1202.15
CD19+_BCells(neg._sel.)877.8
CD33+_Myeloid1369.85
CD34+1351.05
CD4+_Tcells934.45
CD56+_NKCells1061.5
CD71+_EarlyErythroid801.45
CD8+_Tcells614
CardiacMyocytes745.95
Caudatenucleus511
Cerebellum371.75
CerebellumPeduncles822.8
CiliaryGanglion181.75
CingulateCortex694.6
Colorectaladenocarcinoma425.65
DorsalRootGanglion313.5
FetalThyroid815.85
Fetalbrain469.15
Fetalliver500.15
Fetallung471.45
GlobusPallidus430.35
Heart1756.1
Hypothalamus982.65
Kidney456
Leukemia_chronicMyelogenousK-562924.35
Leukemia_promyelocytic-HL-60712.15
Leukemialymphoblastic(MOLT-4)748.4
Liver1155.8
Lung497.85
Lymphnode380.4
Lymphoma_burkitts(Daudi)839.7
Lymphoma_burkitts(Raji)618.1
MedullaOblongata561.7
OccipitalLobe591.6
OlfactoryBulb335.7
Ovary306.15
Pancreas415.75
PancreaticIslet683
ParietalLobe608.85
Pituitary771
Placenta470.55
Pons442.9
PrefrontalCortex882.8
Prostate745.3
Salivarygland557.1
SkeletalMuscle751.95
Skin306.65
SmoothMuscle1287.25
Spinalcord480.75
SubthalamicNucleus534.3
SuperiorCervicalGanglion162.2
TemporalLobe789.45
Testis263.5
TestisGermCell388.95
TestisIntersitial316.45
TestisLeydigCell248.55
TestisSeminiferousTubule229.65
Thalamus730.15
Thymus429.15
Thyroid925.35
Tongue682.6
Tonsil496.6
Trachea334.95
TrigeminalGanglion156.65
Uterus346
UterusCorpus308.05
WholeBlood778.9
Wholebrain1050.55
colon895.05
pineal_day1662.24
pineal_night1337.86
retina1004.175
small_intestine812.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9499_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
Amygdala12.54 ± 0.17
Basal Forebrain12.27 ± 0.11
Basal Part of Pons12.72 ± 0.08
Cerebellar Cortex12.39 ± 0.16
Cerebellar Nuclei12.76 ± 0.18
Claustrum12.44 ± 0.14
Epithalamus12.23 ± 0.14
Frontal Lobe12.57 ± 0.25
Globus Pallidus12.3 ± 0.32
Hypothalamus12.53 ± 0.11
Insula12.52 ± 0.31
Limbic Lobe12.48 ± 0.35
Mesencephalon12.44 ± 0.25
Myelencephalon12.43 ± 0.29
Occipital Lobe12.31 ± 0.25
Parietal Lobe12.53 ± 0.27
Pontine Tegmentum12.51 ± 0.2
Striatum12.49 ± 0.23
Subthalamus12.86 ± 0.12
Temporal Lobe12.55 ± 0.24
Thalamus12.44 ± 0.18
White Matter11.7 ± 0.19
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ATP5H_HUMAN_0 0 0 0 AGLVDDFEKK PRIDE
ATP5H_HUMAN_0 0 0 0 TIDWVAFAEIIPQNQK PRIDE
ATP5H_HUMAN_0 0 0 0 VPVPEDKYTAQVDAEEKEDVK PRIDE
ATP5H_HUMAN_0 0 0 0 YTAQVDAEEKEDVK PRIDE
ATP5H_HUMAN_10 16 10 25 TIDWVAFAEIIPQNQK PRIDE
ATP5H_HUMAN_100 10 100 109 SCAEWVSLSK PRIDE
ATP5H_HUMAN_111 10 111 120 IVEYEKEMEK PRIDE
ATP5H_HUMAN_112 10 112 121 IVEYEKEMEK PRIDE
ATP5H_HUMAN_112 6 112 117 IVEYEK PRIDE
ATP5H_HUMAN_123 21 123 143 NLIPFDQMTIEDLNEAFPETK PRIDE
ATP5H_HUMAN_124 21 124 144 NLIPFDQMTIEDLNEAFPETK PRIDE
ATP5H_HUMAN_148 13 148 160 KYPYWPHQPIENL PRIDE
ATP5H_HUMAN_149 12 149 160 YPYWPHQPIENL PRIDE
ATP5H_HUMAN_149 13 149 161 KYPYWPHQPIENL PRIDE
ATP5H_HUMAN_150 12 150 161 YPYWPHQPIENL PRIDE
ATP5H_HUMAN_25 16 25 40 AIASSLKSWNETLTSR PRIDE
ATP5H_HUMAN_26 7 26 32 AIASSLK PRIDE
ATP5H_HUMAN_32 9 32 40 SWNETLTSR PRIDE
ATP5H_HUMAN_33 26 33 58 SWNETLTSRLAALPENPPAIDWAYYK PRIDE
ATP5H_HUMAN_33 9 33 41 SWNETLTSR PRIDE
ATP5H_HUMAN_41 17 41 57 LAALPENPPAIDWAYYK PRIDE
ATP5H_HUMAN_42 17 42 58 LAALPENPPAIDWAYYK PRIDE
ATP5H_HUMAN_63 10 63 72 AGLVDDFEKK PRIDE
ATP5H_HUMAN_63 9 63 71 AGLVDDFEK PRIDE
ATP5H_HUMAN_64 9 64 72 AGLVDDFEK PRIDE
ATP5H_HUMAN_79 17 79 95 VPVPEDKYTAQVDAEEK PRIDE
ATP5H_HUMAN_79 7 79 85 VPVPEDK PRIDE
ATP5H_HUMAN_85 14 85 98 YTAQVDAEEKEDVK PRIDE
ATP5H_HUMAN_86 14 86 99 YTAQVDAEEKEDVK PRIDE
ATP5H_HUMAN_9 16 9 24 TIDWVAFAEIIPQNQK PRIDE
ATP5H_HUMAN_99 10 99 108 SCAEWVSLSK PRIDE
PAp00004657 13 149 161 KYPYWPHQPIENL 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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