AutismKB 2.0

Annotation Detail for ATP5C1


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Basic Information Top
Gene Symbol:ATP5C1 ( ATP5C,ATP5CL1 )
Gene Full Name: ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1
Band: 10p14
Quick LinksEntrez ID:509; OMIM: 108729; Uniprot ID:ATPG_HUMAN; ENSEMBL ID: ENSG00000165629; HGNC ID: 833
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 body11 / 70761155
blastocyst8 / 62319128
fetus81 / 564012143
neonate10 / 31097321
infant2 / 2362084
juvenile3 / 5555653
adult367 / 1939121189
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor12 / 12794937
bladder carcinoma50 / 174752861
breast (mammary gland) tumor31 / 94178329
cervical tumor1 / 3436629
chondrosarcoma26 / 82823313
colorectal tumor8 / 11424670
esophageal tumor2 / 17290115
gastrointestinal tumor43 / 119369360
germ cell tumor49 / 263845185
glioma8 / 10688374
head and neck tumor44 / 136302322
kidney tumor9 / 68959130
leukemia31 / 95842323
liver tumor18 / 96359186
lung tumor9 / 10312787
lymphoma14 / 71755195
non-neoplasia10 / 97250102
normal641 / 3360307190
ovarian tumor10 / 76682130
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer5 / 10268048
retinoblastoma5 / 46356107
skin tumor37 / 124949296
soft tissue/muscle tissue tumor24 / 125191191
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland18 / 33197542
ascites7 / 40015174
bladder50 / 297571680
blood43 / 123478348
bone26 / 71655362
bone marrow53 / 488011086
brain121 / 1100989109
cervix1 / 4817120
connective tissue16 / 149255107
ear3 / 16212185
embryonic tissue31 / 215722143
esophagus2 / 2020998
eye33 / 211054156
heart22 / 89626245
intestine21 / 23447289
kidney36 / 211777169
larynx1 / 2414541
liver44 / 207743211
lung54 / 336974160
lymph4 / 4427090
lymph node1 / 9161010
mammary gland32 / 153271208
mouth12 / 67052178
muscle54 / 107715501
nerve1 / 1576863
ovary17 / 102051166
pancreas60 / 214812279
parathyroid6 / 20539292
pharynx25 / 41328604
pituitary gland3 / 16585180
placenta35 / 280825124
prostate11 / 18934558
salivary gland23 / 201551141
skin49 / 210574232
spleen3 / 5395255
stomach50 / 96619517
testis51 / 330442154
thymus4 / 8113149
thyroid23 / 47473484
tonsil1 / 1699958
trachea3 / 5241357
umbilical cord10 / 13680730
uterus34 / 232878145
vascular18 / 51780347
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213366_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts2599.15
Adipocyte755.65
AdrenalCortex865.35
Adrenalgland903
Amygdala737.15
Appendix248.15
AtrioventricularNode24.55
BDCA4+_DentriticCells1382.85
Bonemarrow201.65
BronchialEpithelialCells1386.95
CD105+_Endothelial1352.6
CD14+_Monocytes1355
CD19+_BCells(neg._sel.)874.2
CD33+_Myeloid1213.8
CD34+2032.6
CD4+_Tcells779.25
CD56+_NKCells1220.65
CD71+_EarlyErythroid670.75
CD8+_Tcells608.6
CardiacMyocytes664.45
Caudatenucleus515.45
Cerebellum345.2
CerebellumPeduncles642.2
CiliaryGanglion113.05
CingulateCortex606.5
Colorectaladenocarcinoma321.65
DorsalRootGanglion140.65
FetalThyroid1052.85
Fetalbrain821.3
Fetalliver576.9
Fetallung661.85
GlobusPallidus285.25
Heart2863.15
Hypothalamus959.9
Kidney868.4
Leukemia_chronicMyelogenousK-5621375.2
Leukemia_promyelocytic-HL-601547.4
Leukemialymphoblastic(MOLT-4)1335.15
Liver276.5
Lung438.6
Lymphnode350.9
Lymphoma_burkitts(Daudi)1286.6
Lymphoma_burkitts(Raji)834.25
MedullaOblongata572.1
OccipitalLobe674.85
OlfactoryBulb294.95
Ovary245.2
Pancreas530.85
PancreaticIslet670.85
ParietalLobe543.4
Pituitary658.75
Placenta483.7
Pons366.65
PrefrontalCortex771.1
Prostate508.15
Salivarygland510.2
SkeletalMuscle814.3
Skin147.85
SmoothMuscle1096.35
Spinalcord626.7
SubthalamicNucleus482.6
SuperiorCervicalGanglion106.8
TemporalLobe539.1
Testis251.1
TestisGermCell816.55
TestisIntersitial301.25
TestisLeydigCell282.8
TestisSeminiferousTubule261.85
Thalamus865.25
Thymus609.3
Thyroid833.45
Tongue870.1
Tonsil729.05
Trachea361.9
TrigeminalGanglion127.5
Uterus379.3
UterusCorpus400.6
WholeBlood632.75
Wholebrain1028.25
colon1188.85
pineal_day1341.66
pineal_night1082.98
retina619
small_intestine1047.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5537_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
Amygdala10.06 ± 0.3
Basal Forebrain9.61 ± 0.25
Basal Part of Pons9.98 ± 0.37
Cerebellar Cortex9.5 ± 0.28
Cerebellar Nuclei10 ± 0.28
Claustrum9.61 ± 0.25
Epithalamus9.24 ± 0.35
Frontal Lobe9.74 ± 0.37
Globus Pallidus10.2 ± 0.16
Hypothalamus9.59 ± 0.37
Insula9.54 ± 0.49
Limbic Lobe10.01 ± 0.4
Mesencephalon9.84 ± 0.5
Myelencephalon9.78 ± 0.37
Occipital Lobe10.01 ± 0.39
Parietal Lobe9.86 ± 0.36
Pontine Tegmentum9.79 ± 0.3
Striatum10.06 ± 0.37
Subthalamus9.95 ± 0.08
Temporal Lobe9.77 ± 0.33
Thalamus9.78 ± 0.32
White Matter9.53 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp5c1CBCerebellum42.47
100
Atp5c1CTXCerebral cortex100
100
Atp5c1HIPHippocampal region99.42
100
Atp5c1HPFHippocampal formation100
100
Atp5c1HYHypothalamus89.94
92.11
Atp5c1LSXLateral septal complex86.33
80.22
Atp5c1MBMidbrain97.56
100
Atp5c1MYMedulla93.46
100
Atp5c1OLFOlfactory bulb100
100
Atp5c1PPons90.19
100
Atp5c1PALPallidum85.74
100
Atp5c1RHPRetrohippocampal region100
100
Atp5c1sAMYStriatum-like amygdalar nuclei77.96
75.03
Atp5c1STRStriatum85.91
78.56
Atp5c1STRdStriatum dorsal region85.94
78.32
Atp5c1STRvStriatum ventral region95.06
83.99
Atp5c1THThalamus98.66
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ATPG_HUMAN_0 0 0 0 ELIEIISGAAALD PRIDE
ATPG_HUMAN_0 0 0 0 EVMLVGIGDKIR PRIDE
ATPG_HUMAN_0 0 0 0 GLCGAIHSSIAK PRIDE
ATPG_HUMAN_0 0 0 0 HLLIGVSSDR PRIDE
ATPG_HUMAN_0 0 0 0 IYGLGSLALYEK PRIDE
ATPG_HUMAN_0 0 0 0 SEVATLTAAGK PRIDE
ATPG_HUMAN_1 23 1 23 MFSRAGVAGLSAWTLQPQWIQVR PRIDE
ATPG_HUMAN_100 12 100 111 GLCGAIHSSIAK PRIDE
ATPG_HUMAN_101 12 101 112 GLCGAIHSSIAK PRIDE
ATPG_HUMAN_115 11 115 125 SEVATLTAAGK PRIDE
ATPG_HUMAN_116 11 116 126 SEVATLTAAGK PRIDE
ATPG_HUMAN_126 10 126 135 EVMLVGIGDK PRIDE
ATPG_HUMAN_126 12 126 137 EVMLVGIGDKIR PRIDE
ATPG_HUMAN_13 11 13 23 WTLQPQWIQVR PRIDE
ATPG_HUMAN_143 11 143 153 THSDQFLVAFK PRIDE
ATPG_HUMAN_144 11 144 154 THSDQFLVAFK PRIDE
ATPG_HUMAN_26 8 26 33 ATLKDITR PRIDE
ATPG_HUMAN_262 15 262 276 NASEMIDKLTLTFNR PRIDE
ATPG_HUMAN_263 15 263 277 NASEMIDKLTLTFNR PRIDE
ATPG_HUMAN_271 7 271 277 LTLTFNR PRIDE
ATPG_HUMAN_285 13 285 297 ELIEIISGAAALD PRIDE
ATPG_HUMAN_67 12 67 78 IYGLGSLALYEK PRIDE
ATPG_HUMAN_68 12 68 79 IYGLGSLALYEK PRIDE
ATPG_HUMAN_90 10 90 99 HLLIGVSSDR PRIDE
ATPG_HUMAN_91 10 91 100 HLLIGVSSDR PRIDE
PAp00002949 12 101 112 GLCGAIHSSIAK 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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