AutismKB 2.0

Annotation Detail for ATP5B


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Basic Information Top
Gene Symbol:ATP5B ( ATPMB,ATPSB,MGC5231 )
Gene Full Name: ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide
Band: 12q13.3
Quick LinksEntrez ID:506; OMIM: 102910; Uniprot ID:ATPB_HUMAN; ENSEMBL ID: ENSG00000110955; HGNC ID: 830
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 body58 / 70761819
blastocyst53 / 62319850
fetus102 / 564012180
neonate2 / 3109764
infant12 / 23620508
juvenile50 / 55556899
adult804 / 1939121414
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor12 / 12794937
bladder carcinoma5 / 17475286
breast (mammary gland) tumor85 / 94178902
cervical tumor55 / 343661600
chondrosarcoma27 / 82823325
colorectal tumor80 / 114246700
esophageal tumor2 / 17290115
gastrointestinal tumor67 / 119369561
germ cell tumor130 / 263845492
glioma28 / 106883261
head and neck tumor58 / 136302425
kidney tumor38 / 68959551
leukemia48 / 95842500
liver tumor88 / 96359913
lung tumor149 / 1031271444
lymphoma101 / 717551407
non-neoplasia9 / 9725092
normal900 / 3360307267
ovarian tumor35 / 76682456
pancreatic tumor58 / 104616554
primitive neuroectodermal tumor of the CNS185 / 1256801471
prostate cancer94 / 102680915
retinoblastoma65 / 463561402
skin tumor112 / 124949896
soft tissue/muscle tissue tumor86 / 125191686
uterine tumor21 / 90257232
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue9 / 13106686
adrenal gland18 / 33197542
ascites28 / 40015699
bladder14 / 29757470
blood51 / 123478413
bone32 / 71655446
bone marrow7 / 48801143
brain412 / 1100989374
cervix57 / 481711183
connective tissue14 / 14925593
ear5 / 16212308
embryonic tissue165 / 215722764
esophagus2 / 2020998
eye143 / 211054677
heart42 / 89626468
intestine117 / 234472498
kidney56 / 211777264
larynx4 / 24145165
liver133 / 207743640
lung179 / 336974531
lymph74 / 442701671
lymph node16 / 91610174
mammary gland95 / 153271619
mouth6 / 6705289
muscle87 / 107715807
nerve7 / 15768443
ovary50 / 102051489
pancreas74 / 214812344
parathyroid0 / 205390 
pharynx6 / 41328145
pituitary gland6 / 16585361
placenta142 / 280825505
prostate105 / 189345554
salivary gland14 / 20155694
skin129 / 210574612
spleen6 / 53952111
stomach40 / 96619413
testis89 / 330442269
thymus22 / 81131271
thyroid42 / 47473884
tonsil5 / 16999294
trachea0 / 524130 
umbilical cord1 / 1368073
uterus85 / 232878364
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201322_at
Cell line Expression level Expression bar
721_B_lymphoblasts3854.45
Adipocyte1983.35
AdrenalCortex1186.8
Adrenalgland1191.9
Amygdala1044.6
Appendix351.8
AtrioventricularNode153.6
BDCA4+_DentriticCells1612.45
Bonemarrow621.6
BronchialEpithelialCells2322.35
CD105+_Endothelial969.2
CD14+_Monocytes1401.85
CD19+_BCells(neg._sel.)921.05
CD33+_Myeloid1433.15
CD34+1839.25
CD4+_Tcells901.6
CD56+_NKCells979.8
CD71+_EarlyErythroid1055.15
CD8+_Tcells766.95
CardiacMyocytes1191.35
Caudatenucleus1187.15
Cerebellum1922.6
CerebellumPeduncles2422.3
CiliaryGanglion348.2
CingulateCortex1599.1
Colorectaladenocarcinoma1225
DorsalRootGanglion491.2
FetalThyroid1253.05
Fetalbrain1017.75
Fetalliver732.15
Fetallung1040.95
GlobusPallidus1070.65
Heart5141.35
Hypothalamus2375.85
Kidney2076.6
Leukemia_chronicMyelogenousK-5622557.35
Leukemia_promyelocytic-HL-602393.9
Leukemialymphoblastic(MOLT-4)1546.35
Liver994.7
Lung1209.9
Lymphnode623.65
Lymphoma_burkitts(Daudi)2312.25
Lymphoma_burkitts(Raji)2461.55
MedullaOblongata1485.3
OccipitalLobe1926.25
OlfactoryBulb483.6
Ovary364.65
Pancreas719.2
PancreaticIslet1126.8
ParietalLobe2117.55
Pituitary1178.1
Placenta1253.85
Pons1316.7
PrefrontalCortex1243.25
Prostate1026.2
Salivarygland846.3
SkeletalMuscle1694.5
Skin470.55
SmoothMuscle1768.3
Spinalcord862.35
SubthalamicNucleus1444.7
SuperiorCervicalGanglion235.65
TemporalLobe1434.65
Testis1197.2
TestisGermCell1275.3
TestisIntersitial995.05
TestisLeydigCell1004.7
TestisSeminiferousTubule868.3
Thalamus2727.5
Thymus1591.8
Thyroid1623.7
Tongue1539.95
Tonsil1018.55
Trachea570.2
TrigeminalGanglion510.65
Uterus547.3
UterusCorpus548.5
WholeBlood795.15
Wholebrain2608.5
colon1639.05
pineal_day2237.58
pineal_night2162.46
retina1464.7
small_intestine1416.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12105_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
Amygdala7.82 ± 0.52
Basal Forebrain8.05 ± 0.24
Basal Part of Pons8.92 ± 0.22
Cerebellar Cortex8.72 ± 0.35
Cerebellar Nuclei8.63 ± 0.36
Claustrum7.82 ± 0.45
Epithalamus8.14 ± 0.62
Frontal Lobe8.65 ± 0.44
Globus Pallidus7.58 ± 0.27
Hypothalamus8.63 ± 0.28
Insula8.47 ± 0.33
Limbic Lobe8.15 ± 0.62
Mesencephalon8.32 ± 0.53
Myelencephalon8.27 ± 0.61
Occipital Lobe7.83 ± 0.51
Parietal Lobe8.38 ± 0.46
Pontine Tegmentum8.35 ± 0.37
Striatum7.74 ± 0.44
Subthalamus8.78 ± 0.4
Temporal Lobe8.44 ± 0.49
Thalamus8.5 ± 0.4
White Matter7.05 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp5bCBCerebellum100
100
Atp5bCTXCerebral cortex100
100
Atp5bHIPHippocampal region100
100
Atp5bHPFHippocampal formation100
100
Atp5bHYHypothalamus100
100
Atp5bLSXLateral septal complex100
100
Atp5bMBMidbrain100
100
Atp5bMYMedulla100
100
Atp5bOLFOlfactory bulb100
100
Atp5bPPons100
100
Atp5bPALPallidum100
100
Atp5bRHPRetrohippocampal region100
100
Atp5bsAMYStriatum-like amygdalar nuclei100
100
Atp5bSTRStriatum100
100
Atp5bSTRdStriatum dorsal region100
100
Atp5bSTRvStriatum ventral region100
100
Atp5bTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ATPB_HUMAN_0 0 0 0 AHGGYSVFAGVGER PRIDE
ATPB_HUMAN_0 0 0 0 AIAELGIYPAVDPLDSTSR PRIDE
ATPB_HUMAN_0 0 0 0 FTQAGSEVSALLGR PRIDE
ATPB_HUMAN_0 0 0 0 IGLFGGAGVGK PRIDE
ATPB_HUMAN_0 0 0 0 LVLEVAQHLGESTVR PRIDE
ATPB_HUMAN_0 0 0 0 TVLIMELINNVAK PRIDE
ATPB_HUMAN_0 0 0 0 VALTGLTVAEYFR PRIDE
ATPB_HUMAN_0 0 0 0 VLDSGAPIKIPVGPETLGR PRIDE
ATPB_HUMAN_0 0 0 0 VVDLLAPYAK PRIDE
ATPB_HUMAN_109 12 109 120 TIAMDGTEGLVR PRIDE
ATPB_HUMAN_110 12 110 121 TIAMDGTEGLVR PRIDE
ATPB_HUMAN_111 11 111 121 IAMDGTEGLVR PRIDE
ATPB_HUMAN_113 9 113 121 MDGTEGLVR PRIDE
ATPB_HUMAN_121 22 121 142 GQKVLDSGAPIKIPVGPETLGR PRIDE
ATPB_HUMAN_124 19 124 142 VLDSGAPIKIPVGPETLGR PRIDE
ATPB_HUMAN_125 19 125 143 VLDSGAPIKIPVGPETLGR PRIDE
ATPB_HUMAN_125 9 125 133 VLDSGAPIK PRIDE
ATPB_HUMAN_134 10 134 143 IPVGPETLGR PRIDE
ATPB_HUMAN_143 12 143 154 IMNVIGEPIDER PRIDE
ATPB_HUMAN_143 16 143 158 IMNVIGEPIDERGPIK PRIDE
ATPB_HUMAN_143 18 143 160 IMNVIGEPIDERGPIKTK PRIDE
ATPB_HUMAN_144 12 144 155 IMNVIGEPIDER PRIDE
ATPB_HUMAN_161 27 161 187 QFAPIHAEAPEFMEMSVEQEILVTGIK PRIDE
ATPB_HUMAN_162 27 162 188 QFAPIHAEAPEFMEMSVEQEILVTGIK PRIDE
ATPB_HUMAN_188 10 188 197 VVDLLAPYAK PRIDE
ATPB_HUMAN_189 10 189 198 VVDLLAPYAK PRIDE
ATPB_HUMAN_201 11 201 211 IGLFGGAGVGK PRIDE
ATPB_HUMAN_202 11 202 212 IGLFGGAGVGK PRIDE
ATPB_HUMAN_212 13 212 224 TVLIMELINNVAK PRIDE
ATPB_HUMAN_212 27 212 238 TVLIMELINNVAKAHGGYSVFAGVGER PRIDE
ATPB_HUMAN_213 13 213 225 TVLIMELINNVAK PRIDE
ATPB_HUMAN_219 10 219 228 LINNVAKAHG PRIDE
ATPB_HUMAN_225 14 225 238 AHGGYSVFAGVGER PRIDE
ATPB_HUMAN_226 14 226 239 AHGGYSVFAGVGER PRIDE
ATPB_HUMAN_239 20 239 258 TREGNDLYHEMIESGVINLK PRIDE
ATPB_HUMAN_240 20 240 259 TREGNDLYHEMIESGVINLK PRIDE
ATPB_HUMAN_241 18 241 258 EGNDLYHEMIESGVINLK PRIDE
ATPB_HUMAN_241 23 241 263 EGNDLYHEMIESGVINLKDATSK PRIDE
ATPB_HUMAN_242 18 242 259 EGNDLYHEMIESGVINLK PRIDE
ATPB_HUMAN_264 15 264 278 VALVYGQMNEPPGAR PRIDE
ATPB_HUMAN_265 15 265 279 VALVYGQMNEPPGAR PRIDE
ATPB_HUMAN_281 13 281 293 VALTGLTVAEYFR PRIDE
ATPB_HUMAN_282 13 282 294 VALTGLTVAEYFR PRIDE
ATPB_HUMAN_294 16 294 309 DQEGQDVLLFIDNIFR PRIDE
ATPB_HUMAN_295 16 295 310 DQEGQDVLLFIDNIFR PRIDE
ATPB_HUMAN_310 14 310 323 FTQAGSEVSALLGR PRIDE
ATPB_HUMAN_310 35 310 344 FTQAGSEVSALLGRIPSAVGYQPTLATDMGTMQER PRIDE
ATPB_HUMAN_311 14 311 324 FTQAGSEVSALLGR PRIDE
ATPB_HUMAN_324 21 324 344 IPSAVGYQPTLATDMGTMQER PRIDE
ATPB_HUMAN_325 21 325 345 IPSAVGYQPTLATDMGTMQER PRIDE
ATPB_HUMAN_35 10 35 44 AAPTAVHPVR PRIDE
ATPB_HUMAN_35 21 35 55 AAPTAVHPVRDYAAQTSPSPK PRIDE
ATPB_HUMAN_350 37 350 386 KGSITSVQAIYVPADDLTDPAPATTFAHLDATTVLSR PRIDE
ATPB_HUMAN_351 37 351 387 KGSITSVQAIYVPADDLTDPAPATTFAHLDATTVLSR PRIDE
ATPB_HUMAN_352 36 352 387 GSITSVQAIYVPADDLTDPAPATTFAHLDATTVLSR PRIDE
ATPB_HUMAN_370 18 370 387 PAPATTFAHLDATTVLSR PRIDE
ATPB_HUMAN_387 19 387 405 AIAELGIYPAVDPLDSTSR PRIDE
ATPB_HUMAN_388 19 388 406 AIAELGIYPAVDPLDSTSR PRIDE
ATPB_HUMAN_406 16 406 421 IMDPNIVGSEHYDVAR PRIDE
ATPB_HUMAN_407 16 407 422 IMDPNIVGSEHYDVAR PRIDE
ATPB_HUMAN_410 13 410 422 PNIVGSEHYDVAR PRIDE
ATPB_HUMAN_427 6 427 432 ILQDYK PRIDE
ATPB_HUMAN_432 24 432 455 SLQDIIAILGMDELSEEDKLTVSR PRIDE
ATPB_HUMAN_433 24 433 456 SLQDIIAILGMDELSEEDKLTVSR PRIDE
ATPB_HUMAN_462 18 462 479 FLSQPFQVAEVFTGHMGK PRIDE
ATPB_HUMAN_463 18 463 480 FLSQPFQVAEVFTGHMGK PRIDE
ATPB_HUMAN_47 16 47 62 AAQTSPSPKAGAATGR PRIDE
ATPB_HUMAN_480 9 480 488 LVPLKETIK PRIDE
ATPB_HUMAN_481 9 481 489 LVPLKETIK PRIDE
ATPB_HUMAN_483 7 483 489 PLKETIK PRIDE
ATPB_HUMAN_489 30 489 518 GFQQILAGEYDHLPEQAFYMVGPIEEAVAK PRIDE
ATPB_HUMAN_489 40 489 528 GFQQILAGEYDHLPEQAFYMVGPIEEAVAKADKLAEEHSS PRIDE
ATPB_HUMAN_490 30 490 519 GFQQILAGEYDHLPEQAFYMVGPIEEAVAK PRIDE
ATPB_HUMAN_94 15 94 108 LVLEVAQHLGESTVR PRIDE
ATPB_HUMAN_95 15 95 109 LVLEVAQHLGESTVR PRIDE
PAp00000398 14 226 239 AHGGYSVFAGVGER 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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