AutismKB 2.0

Annotation Detail for ATP5A1


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Basic Information Top
Gene Symbol:ATP5A1 ( ATP5A,ATP5AL2,ATPM,MOM2,OMR,ORM,hATP1 )
Gene Full Name: ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
Band: 18q21.1
Quick LinksEntrez ID:498; OMIM: 164360; Uniprot ID:ATPA_HUMAN; ENSEMBL ID: ENSG00000152234; HGNC ID: 823
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 body41 / 70761579
blastocyst38 / 62319609
fetus314 / 564012556
neonate90 / 310972894
infant123 / 236205207
juvenile124 / 555562231
adult1109 / 1939121571
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor8 / 12794625
bladder carcinoma1 / 1747557
breast (mammary gland) tumor58 / 94178615
cervical tumor44 / 343661280
chondrosarcoma13 / 82823156
colorectal tumor60 / 114246525
esophageal tumor51 / 172902949
gastrointestinal tumor123 / 1193691030
germ cell tumor373 / 2638451413
glioma43 / 106883402
head and neck tumor81 / 136302594
kidney tumor66 / 68959957
leukemia59 / 95842615
liver tumor81 / 96359840
lung tumor110 / 1031271066
lymphoma123 / 717551714
non-neoplasia190 / 972501953
normal4098 / 33603071219
ovarian tumor60 / 76682782
pancreatic tumor44 / 104616420
primitive neuroectodermal tumor of the CNS350 / 1256802784
prostate cancer65 / 102680633
retinoblastoma2453 / 4635652916
skin tumor116 / 124949928
soft tissue/muscle tissue tumor78 / 125191623
uterine tumor55 / 90257609
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue17 / 131061297
adrenal gland110 / 331973313
ascites66 / 400151649
bladder59 / 297571982
blood113 / 123478915
bone16 / 71655223
bone marrow28 / 48801573
brain1930 / 11009891752
cervix65 / 481711349
connective tissue125 / 149255837
ear7 / 16212431
embryonic tissue144 / 215722667
esophagus62 / 202093067
eye2513 / 21105411906
heart644 / 896267185
intestine298 / 2344721270
kidney279 / 2117771317
larynx9 / 24145372
liver154 / 207743741
lung209 / 336974620
lymph95 / 442702145
lymph node11 / 91610120
mammary gland85 / 153271554
mouth11 / 67052164
muscle134 / 1077151244
nerve7 / 15768443
ovary85 / 102051832
pancreas65 / 214812302
parathyroid0 / 205390 
pharynx65 / 413281572
pituitary gland17 / 165851025
placenta197 / 280825701
prostate109 / 189345575
salivary gland23 / 201551141
skin182 / 210574864
spleen91 / 539521686
stomach149 / 966191542
testis560 / 3304421694
thymus190 / 811312341
thyroid47 / 47473990
tonsil13 / 16999764
trachea38 / 52413725
umbilical cord57 / 136804166
uterus186 / 232878798
vascular37 / 51780714
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213738_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5384.05
Adipocyte1769.75
AdrenalCortex1157.1
Adrenalgland1201.85
Amygdala2400.4
Appendix338.85
AtrioventricularNode121.9
BDCA4+_DentriticCells3567.05
Bonemarrow729.1
BronchialEpithelialCells2219.55
CD105+_Endothelial3869.4
CD14+_Monocytes2435.8
CD19+_BCells(neg._sel.)2558.65
CD33+_Myeloid2692
CD34+4690.4
CD4+_Tcells2144.05
CD56+_NKCells2672
CD71+_EarlyErythroid1553.5
CD8+_Tcells1931.25
CardiacMyocytes1335.55
Caudatenucleus1403.95
Cerebellum924.95
CerebellumPeduncles2018.2
CiliaryGanglion321.95
CingulateCortex1644.9
Colorectaladenocarcinoma863.85
DorsalRootGanglion422.4
FetalThyroid1741.75
Fetalbrain1730.25
Fetalliver975.8
Fetallung1091.95
GlobusPallidus958.35
Heart2926.55
Hypothalamus3357.35
Kidney2113.9
Leukemia_chronicMyelogenousK-5621504.1
Leukemia_promyelocytic-HL-603294.15
Leukemialymphoblastic(MOLT-4)1676.7
Liver787.4
Lung1258.65
Lymphnode983.8
Lymphoma_burkitts(Daudi)2820.45
Lymphoma_burkitts(Raji)4801.3
MedullaOblongata1637.15
OccipitalLobe2013.2
OlfactoryBulb802.05
Ovary390.6
Pancreas658.2
PancreaticIslet1449.55
ParietalLobe1736
Pituitary2474.35
Placenta1148.15
Pons1249.45
PrefrontalCortex2240.85
Prostate1850.95
Salivarygland1498.1
SkeletalMuscle1352.5
Skin454.95
SmoothMuscle2000.7
Spinalcord1145.95
SubthalamicNucleus1504
SuperiorCervicalGanglion141.7
TemporalLobe1237.75
Testis1628.75
TestisGermCell1950.3
TestisIntersitial1203.2
TestisLeydigCell971
TestisSeminiferousTubule880.65
Thalamus2368.15
Thymus1571.25
Thyroid3248.35
Tongue1794
Tonsil1432.85
Trachea708.9
TrigeminalGanglion175.3
Uterus1105.6
UterusCorpus495.2
WholeBlood1196.45
Wholebrain2468.2
colon3146.1
pineal_day5923.66
pineal_night5648.28
retina2722.825
small_intestine2968.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9456_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
Amygdala10.78 ± 0.23
Basal Forebrain10.88 ± 0.16
Basal Part of Pons11.23 ± 0.2
Cerebellar Cortex10.82 ± 0.29
Cerebellar Nuclei11.38 ± 0.32
Claustrum11.16 ± 0.4
Epithalamus10.65 ± 0.32
Frontal Lobe11 ± 0.36
Globus Pallidus11.01 ± 0.27
Hypothalamus11.03 ± 0.24
Insula10.76 ± 0.2
Limbic Lobe10.87 ± 0.4
Mesencephalon11.05 ± 0.43
Myelencephalon10.9 ± 0.32
Occipital Lobe11.05 ± 0.22
Parietal Lobe11.12 ± 0.29
Pontine Tegmentum10.99 ± 0.26
Striatum10.99 ± 0.29
Subthalamus11.33 ± 0.18
Temporal Lobe10.88 ± 0.27
Thalamus11.09 ± 0.21
White Matter9.78 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp5a1CBCerebellum95.19
100
Atp5a1CTXCerebral cortex100
100
Atp5a1HIPHippocampal region100
100
Atp5a1HPFHippocampal formation100
100
Atp5a1HYHypothalamus100
100
Atp5a1LSXLateral septal complex100
92.56
Atp5a1MBMidbrain100
100
Atp5a1MYMedulla100
100
Atp5a1OLFOlfactory bulb100
100
Atp5a1PPons100
100
Atp5a1PALPallidum100
100
Atp5a1RHPRetrohippocampal region100
100
Atp5a1sAMYStriatum-like amygdalar nuclei100
96.95
Atp5a1STRStriatum100
90.9
Atp5a1STRdStriatum dorsal region100
88.65
Atp5a1STRvStriatum ventral region100
94.91
Atp5a1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ATPA_HUMAN_0 0 0 0 EIVTNFLAGFEA PRIDE
ATPA_HUMAN_0 0 0 0 EVAAFAQFGSDLDAATQQLLSR PRIDE
ATPA_HUMAN_0 0 0 0 GIRPAINVGLSVSR PRIDE
ATPA_HUMAN_0 0 0 0 HALIIYDDLSK PRIDE
ATPA_HUMAN_0 0 0 0 ILGADTSVDLEETGR PRIDE
ATPA_HUMAN_0 0 0 0 LKEIVTNFLAGFEA PRIDE
ATPA_HUMAN_0 0 0 0 TGAIVDVPVGEELLGR PRIDE
ATPA_HUMAN_0 0 0 0 TSIAIDTIINQK PRIDE
ATPA_HUMAN_0 0 0 0 VLSIGDGIAR PRIDE
ATPA_HUMAN_0 0 0 0 VVDALGNAIDGK PRIDE
ATPA_HUMAN_103 20 103 122 GMSLNLEPDNVGVVVFGNDK PRIDE
ATPA_HUMAN_103 23 103 125 GMSLNLEPDNVGVVVFGNDKLIK PRIDE
ATPA_HUMAN_104 20 104 123 GMSLNLEPDNVGVVVFGNDK PRIDE
ATPA_HUMAN_132 17 132 148 RTGAIVDVPVGEELLGR PRIDE
ATPA_HUMAN_133 16 133 148 TGAIVDVPVGEELLGR PRIDE
ATPA_HUMAN_133 17 133 149 RTGAIVDVPVGEELLGR PRIDE
ATPA_HUMAN_133 34 133 166 TGAIVDVPVGEELLGRVVDALGNAIDGKGPIGSK PRIDE
ATPA_HUMAN_134 16 134 149 TGAIVDVPVGEELLGR PRIDE
ATPA_HUMAN_135 15 135 149 GAIVDVPVGEELLGR PRIDE
ATPA_HUMAN_149 12 149 160 VVDALGNAIDGK PRIDE
ATPA_HUMAN_149 18 149 166 VVDALGNAIDGKGPIGSK PRIDE
ATPA_HUMAN_150 12 150 161 VVDALGNAIDGK PRIDE
ATPA_HUMAN_150 18 150 167 VVDALGNAIDGKGPIGSK PRIDE
ATPA_HUMAN_160 10 160 169 GKGPIGSKTR PRIDE
ATPA_HUMAN_176 7 176 182 APGIIPR PRIDE
ATPA_HUMAN_182 12 182 193 ISVREPMQTGIK PRIDE
ATPA_HUMAN_187 8 187 194 EPMQTGIK PRIDE
ATPA_HUMAN_194 10 194 203 AVDSLVPIGR PRIDE
ATPA_HUMAN_195 10 195 204 AVDSLVPIGR PRIDE
ATPA_HUMAN_207 11 207 217 ELIIGDRQTGK PRIDE
ATPA_HUMAN_208 7 208 214 ELIIGDR PRIDE
ATPA_HUMAN_215 14 215 228 QTGKTSIAIDTIIN PRIDE
ATPA_HUMAN_215 17 215 231 QTGKTSIAIDTIINQKR PRIDE
ATPA_HUMAN_218 12 218 229 TSIAIDTIINQK PRIDE
ATPA_HUMAN_218 13 218 230 TSIAIDTIINQKR PRIDE
ATPA_HUMAN_219 12 219 230 TSIAIDTIINQK PRIDE
ATPA_HUMAN_241 11 241 251 LYCIYVAIGQK PRIDE
ATPA_HUMAN_241 12 241 252 LYCIYVAIGQKR PRIDE
ATPA_HUMAN_242 12 242 253 LYCIYVAIGQKR PRIDE
ATPA_HUMAN_253 9 253 261 STVAQLVKR PRIDE
ATPA_HUMAN_254 8 254 261 STVAQLVK PRIDE
ATPA_HUMAN_254 9 254 262 STVAQLVKR PRIDE
ATPA_HUMAN_301 15 301 315 DNGKHALIIYDDLSK PRIDE
ATPA_HUMAN_305 11 305 315 HALIIYDDLSK PRIDE
ATPA_HUMAN_306 11 306 316 HALIIYDDLSK PRIDE
ATPA_HUMAN_314 9 314 322 LSKQAVAYR PRIDE
ATPA_HUMAN_323 7 323 329 QMSLLLR PRIDE
ATPA_HUMAN_334 13 334 346 EAYPGDVFYLHSR PRIDE
ATPA_HUMAN_335 13 335 347 EAYPGDVFYLHSR PRIDE
ATPA_HUMAN_402 14 402 415 GIRPAINVGLSVSR PRIDE
ATPA_HUMAN_403 14 403 416 GIRPAINVGLSVSR PRIDE
ATPA_HUMAN_434 7 434 440 LELAQYR PRIDE
ATPA_HUMAN_435 7 435 441 LELAQYR PRIDE
ATPA_HUMAN_44 15 44 58 QKTGTAEMSSILEER PRIDE
ATPA_HUMAN_441 22 441 462 EVAAFAQFGSDLDAATQQLLSR PRIDE
ATPA_HUMAN_442 22 442 463 EVAAFAQFGSDLDAATQQLLSR PRIDE
ATPA_HUMAN_45 13 45 57 TGTAEMSSILEER PRIDE
ATPA_HUMAN_45 14 45 58 KTGTAEMSSILEER PRIDE
ATPA_HUMAN_46 13 46 58 TGTAEMSSILEER PRIDE
ATPA_HUMAN_467 6 467 472 LTELLK PRIDE
ATPA_HUMAN_472 21 472 492 QGQYSPMAIEEQVAVIYAGVR PRIDE
ATPA_HUMAN_493 13 493 505 GYLDKLEPSKITK PRIDE
ATPA_HUMAN_503 24 503 526 ITKFENAFLSHVVSQHQALLGTIR PRIDE
ATPA_HUMAN_504 24 504 527 ITKFENAFLSHVVSQHQALLGTIR PRIDE
ATPA_HUMAN_506 21 506 526 FENAFLSHVVSQHQALLGTIR PRIDE
ATPA_HUMAN_507 21 507 527 FENAFLSHVVSQHQALLGTIR PRIDE
ATPA_HUMAN_539 14 539 552 LKEIVTNFLAGFEA PRIDE
ATPA_HUMAN_540 14 540 553 LKEIVTNFLAGFEA PRIDE
ATPA_HUMAN_541 12 541 552 EIVTNFLAGFEA PRIDE
ATPA_HUMAN_542 12 542 553 EIVTNFLAGFEA PRIDE
ATPA_HUMAN_58 15 58 72 ILGADTSVDLEETGR PRIDE
ATPA_HUMAN_58 25 58 82 ILGADTSVDLEETGRVLSIGDGIAR PRIDE
ATPA_HUMAN_59 15 59 73 ILGADTSVDLEETGR PRIDE
ATPA_HUMAN_73 10 73 82 VLSIGDGIAR PRIDE
ATPA_HUMAN_74 10 74 83 VLSIGDGIAR PRIDE
ATPA_HUMAN_84 20 84 103 VHGLRNVQAEEMVEFSSGLK PRIDE
ATPA_HUMAN_88 15 88 102 NVQAEEMVEFSSGLK PRIDE
ATPA_HUMAN_89 15 89 103 NVQAEEMVEFSSGLK PRIDE
PAp00000317 18 510 527 AFLSHVVSQHQALLGTIR 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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