AutismKB 2.0

Annotation Detail for ACTB


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Basic Information Top
Gene Symbol:ACTB ( PS1TP5BP1 )
Gene Full Name: actin, beta
Band: 7p22.1
Quick LinksEntrez ID:60; OMIM: 102630; Uniprot ID:ACTB_HUMAN; ENSEMBL ID: ENSG00000075624; HGNC ID: 132
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 body443 / 707616260
blastocyst243 / 623193899
fetus1390 / 5640122464
neonate323 / 3109710386
infant269 / 2362011388
juvenile970 / 5555617459
adult6309 / 19391213253
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor24 / 127941875
bladder carcinoma15 / 17475858
breast (mammary gland) tumor408 / 941784332
cervical tumor207 / 343666023
chondrosarcoma290 / 828233501
colorectal tumor427 / 1142463737
esophageal tumor197 / 1729011393
gastrointestinal tumor777 / 1193696509
germ cell tumor1520 / 2638455760
glioma562 / 1068835258
head and neck tumor484 / 1363023550
kidney tumor255 / 689593697
leukemia635 / 958426625
liver tumor384 / 963593985
lung tumor570 / 1031275527
lymphoma742 / 7175510340
non-neoplasia579 / 972505953
normal10873 / 33603073235
ovarian tumor306 / 766823990
pancreatic tumor442 / 1046164224
primitive neuroectodermal tumor of the CNS1315 / 12568010463
prostate cancer545 / 1026805307
retinoblastoma146 / 463563149
skin tumor620 / 1249494962
soft tissue/muscle tissue tumor441 / 1251913522
uterine tumor388 / 902574298
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue63 / 131064806
adrenal gland134 / 331974036
ascites268 / 400156697
bladder110 / 297573696
blood948 / 1234787677
bone211 / 716552944
bone marrow205 / 488014200
brain4509 / 11009894095
cervix317 / 481716580
connective tissue641 / 1492554294
ear44 / 162122714
embryonic tissue1068 / 2157224950
esophagus277 / 2020913706
eye488 / 2110542312
heart221 / 896262465
intestine1171 / 2344724994
kidney675 / 2117773187
larynx116 / 241454804
liver548 / 2077432637
lung1297 / 3369743848
lymph385 / 442708696
lymph node299 / 916103263
mammary gland528 / 1532713444
mouth41 / 67052611
muscle99 / 107715919
nerve38 / 157682409
ovary416 / 1020514076
pancreas568 / 2148122644
parathyroid8 / 20539389
pharynx81 / 413281959
pituitary gland15 / 16585904
placenta800 / 2808252848
prostate741 / 1893453913
salivary gland123 / 201556102
skin952 / 2105744520
spleen346 / 539526413
stomach631 / 966196530
testis781 / 3304422363
thymus377 / 811314646
thyroid309 / 474736508
tonsil207 / 1699912177
trachea38 / 52413725
umbilical cord215 / 1368015716
uterus1417 / 2328786084
vascular280 / 517805407
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: AFFX-HSAC07/X00351_5_at
Cell line Expression level Expression bar
721_B_lymphoblasts13454
Adipocyte4727.05
AdrenalCortex608.95
Adrenalgland1149
Amygdala2235.35
Appendix1151.2
AtrioventricularNode263.25
BDCA4+_DentriticCells6503.3
Bonemarrow3818.75
BronchialEpithelialCells3718.95
CD105+_Endothelial1673.7
CD14+_Monocytes7445.9
CD19+_BCells(neg._sel.)3298.4
CD33+_Myeloid8668.1
CD34+3661.25
CD4+_Tcells5667.45
CD56+_NKCells6677.3
CD71+_EarlyErythroid2770.9
CD8+_Tcells4874.05
CardiacMyocytes8393.75
Caudatenucleus1102.75
Cerebellum1199.35
CerebellumPeduncles2064.2
CiliaryGanglion407.15
CingulateCortex537.15
Colorectaladenocarcinoma3260.9
DorsalRootGanglion722.85
FetalThyroid1118.8
Fetalbrain1432.5
Fetalliver1165.45
Fetallung2089.25
GlobusPallidus1038.8
Heart2104.15
Hypothalamus760.25
Kidney1208.05
Leukemia_chronicMyelogenousK-562941.55
Leukemia_promyelocytic-HL-602180.05
Leukemialymphoblastic(MOLT-4)1786.6
Liver1033.4
Lung6700.95
Lymphnode1714.8
Lymphoma_burkitts(Daudi)1106.55
Lymphoma_burkitts(Raji)2130.1
MedullaOblongata1382.05
OccipitalLobe2423.8
OlfactoryBulb862.85
Ovary1703.9
Pancreas694.55
PancreaticIslet951.4
ParietalLobe2327.35
Pituitary1006.55
Placenta5134
Pons1227.6
PrefrontalCortex3142.1
Prostate3921.7
Salivarygland68.9
SkeletalMuscle699.9
Skin293
SmoothMuscle8325.75
Spinalcord1417.55
SubthalamicNucleus1093.7
SuperiorCervicalGanglion184.9
TemporalLobe1127.3
Testis371.1
TestisGermCell1941.5
TestisIntersitial831.2
TestisLeydigCell1140.75
TestisSeminiferousTubule639.05
Thalamus474.35
Thymus4475.35
Thyroid2580.95
Tongue750
Tonsil5460.15
Trachea1733.85
TrigeminalGanglion289.25
Uterus4313.4
UterusCorpus2793.85
WholeBlood8410.5
Wholebrain1964.9
colon3803.55
pineal_day912.96
pineal_night905.4
retina2525.775
small_intestine2591.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P135769
  • 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
Amygdala13.11 ± 0.3
Basal Forebrain12.85 ± 0.14
Basal Part of Pons12.92 ± 0.22
Cerebellar Cortex12.49 ± 0.18
Cerebellar Nuclei13.04 ± 0.25
Claustrum13.36 ± 0.52
Epithalamus12.48 ± 0.24
Frontal Lobe12.74 ± 0.34
Globus Pallidus13.08 ± 0.16
Hypothalamus12.66 ± 0.24
Insula12.68 ± 0.24
Limbic Lobe13.13 ± 0.38
Mesencephalon12.79 ± 0.39
Myelencephalon12.87 ± 0.31
Occipital Lobe13.01 ± 0.25
Parietal Lobe12.89 ± 0.43
Pontine Tegmentum12.85 ± 0.26
Striatum13.27 ± 0.3
Subthalamus12.77 ± 0.12
Temporal Lobe12.83 ± 0.32
Thalamus12.77 ± 0.25
White Matter13.59 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
ActbCBCerebellum100
100
ActbCTXCerebral cortex100
100
ActbHIPHippocampal region100
100
ActbHPFHippocampal formation100
100
ActbHYHypothalamus100
100
ActbLSXLateral septal complex100
100
ActbMBMidbrain100
100
ActbMYMedulla100
100
ActbOLFOlfactory bulb100
100
ActbPPons100
100
ActbPALPallidum100
100
ActbRHPRetrohippocampal region100
100
ActbsAMYStriatum-like amygdalar nuclei100
100
ActbSTRStriatum100
100
ActbSTRdStriatum dorsal region100
100
ActbSTRvStriatum ventral region100
100
ActbTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ACTB_HUMAN_0 0 0 0 AGFAGDDAPR PRIDE
ACTB_HUMAN_0 0 0 0 AVFPSIVGRPR PRIDE
ACTB_HUMAN_0 0 0 0 DLTDYLMK PRIDE
ACTB_HUMAN_0 0 0 0 EITALAPSTMK PRIDE
ACTB_HUMAN_0 0 0 0 EKLCYVALDFEQEMATAASSSSLEK PRIDE
ACTB_HUMAN_0 0 0 0 GYSFTTTAER PRIDE
ACTB_HUMAN_0 0 0 0 HQGVMVGMGQK PRIDE
ACTB_HUMAN_0 0 0 0 IWHHTFYNELR PRIDE
ACTB_HUMAN_0 0 0 0 KDLYANTVLSGGTTMYPGIADR PRIDE
ACTB_HUMAN_0 0 0 0 SYELPDGQVITIGNER PRIDE
ACTB_HUMAN_0 0 0 0 TTGIVMDSGDGVTHTVPIYEGYALPHAILR PRIDE
ACTB_HUMAN_1 28 1 28 MDDDIAALVVDNGSGMCKAGFAGDDAPR PRIDE
ACTB_HUMAN_12 17 12 28 NGSGMCKAGFAGDDAPR PRIDE
ACTB_HUMAN_13 16 13 28 GSGMCKAGFAGDDAPR PRIDE
ACTB_HUMAN_14 15 14 28 SGMCKAGFAGDDAPR PRIDE
ACTB_HUMAN_147 30 147 176 TTGIVMDSGDGVTHTVPIYEGYALPHAILR PRIDE
ACTB_HUMAN_147 36 147 182 TTGIVMDSGDGVTHTVPIYEGYALPHAILRLDLAGR PRIDE
ACTB_HUMAN_147 44 147 190 TTGIVMDSGDGVTHTVPIYEGYALPHAILRLDLAGRDLTDYLMK PRIDE
ACTB_HUMAN_148 30 148 177 TTGIVMDSGDGVTHTVPIYEGYALPHAILR PRIDE
ACTB_HUMAN_149 29 149 177 TGIVMDSGDGVTHTVPIYEGYALPHAILR PRIDE
ACTB_HUMAN_155 23 155 177 SGDGVTHTVPIYEGYALPHAILR PRIDE
ACTB_HUMAN_158 20 158 177 GVTHTVPIYEGYALPHAILR PRIDE
ACTB_HUMAN_16 13 16 28 MCKAGFAGDDAPR PRIDE
ACTB_HUMAN_177 14 177 190 LDLAGRDLTDYLMK PRIDE
ACTB_HUMAN_177 19 177 195 LDLAGRDLTDYLMKILTER PRIDE
ACTB_HUMAN_18 10 18 27 AGFAGDDAPR PRIDE
ACTB_HUMAN_183 13 183 195 DLTDYLMKILTER PRIDE
ACTB_HUMAN_183 23 183 205 DLTDYLMKILTERGYSFTTTAER PRIDE
ACTB_HUMAN_183 8 183 190 DLTDYLMK PRIDE
ACTB_HUMAN_184 13 184 196 DLTDYLMKILTER PRIDE
ACTB_HUMAN_184 8 184 191 DLTDYLMK PRIDE
ACTB_HUMAN_19 10 19 28 AGFAGDDAPR PRIDE
ACTB_HUMAN_191 15 191 205 ILTERGYSFTTTAER PRIDE
ACTB_HUMAN_196 10 196 205 GYSFTTTAER PRIDE
ACTB_HUMAN_196 14 196 209 GYSFTTTAEREIVR PRIDE
ACTB_HUMAN_197 10 197 206 GYSFTTTAER PRIDE
ACTB_HUMAN_198 9 198 206 YSFTTTAER PRIDE
ACTB_HUMAN_2 11 2 12 DDDIAALVVDN PRIDE
ACTB_HUMAN_2 15 2 16 DDDIAALVVDNGSGM PRIDE
ACTB_HUMAN_2 20 2 21 DDDIAALVVDNGSGMCKAGF PRIDE
ACTB_HUMAN_2 24 2 25 DDDIAALVVDNGSGMCKAGFAGDD PRIDE
ACTB_HUMAN_2 27 2 28 DDDIAALVVDNGSGMCKAGFAGDDAPR PRIDE
ACTB_HUMAN_210 28 210 237 DIKEKLCYVALDFEQEMATAASSSSLEK PRIDE
ACTB_HUMAN_213 25 213 237 EKLCYVALDFEQEMATAASSSSLEK PRIDE
ACTB_HUMAN_215 23 215 237 LCYVALDFEQEMATAASSSSLEK PRIDE
ACTB_HUMAN_216 23 216 238 LCYVALDFEQEMATAASSSSLEK PRIDE
ACTB_HUMAN_238 16 238 253 SYELPDGQVITIGNER PRIDE
ACTB_HUMAN_238 18 238 255 SYELPDGQVITIGNERFR PRIDE
ACTB_HUMAN_239 16 239 254 SYELPDGQVITIGNER PRIDE
ACTB_HUMAN_254 30 254 283 FRCPEALFQPSFLGMESCGIHETTFNSIMK PRIDE
ACTB_HUMAN_256 28 256 283 CPEALFQPSFLGMESCGIHETTFNSIMK PRIDE
ACTB_HUMAN_28 11 28 38 AVFPSIVGRPR PRIDE
ACTB_HUMAN_281 10 281 290 SIMKCDVDIR PRIDE
ACTB_HUMAN_284 28 284 311 CDVDIRKDLYANTVLSGGTTMYPGIADR PRIDE
ACTB_HUMAN_29 11 29 39 AVFPSIVGRPR PRIDE
ACTB_HUMAN_29 9 29 37 AVFPSIVGR PRIDE
ACTB_HUMAN_290 22 290 311 KDLYANTVLSGGTTMYPGIADR PRIDE
ACTB_HUMAN_291 21 291 311 DLYANTVLSGGTTMYPGIADR PRIDE
ACTB_HUMAN_291 22 291 312 KDLYANTVLSGGTTMYPGIADR PRIDE
ACTB_HUMAN_291 24 291 314 DLYANTVLSGGTTMYPGIADRMQK PRIDE
ACTB_HUMAN_292 21 292 312 DLYANTVLSGGTTMYPGIADR PRIDE
ACTB_HUMAN_312 14 312 325 MQKEITALAPSTMK PRIDE
ACTB_HUMAN_315 11 315 325 EITALAPSTMK PRIDE
ACTB_HUMAN_315 13 315 327 EITALAPSTMKIK PRIDE
ACTB_HUMAN_316 11 316 326 EITALAPSTMK PRIDE
ACTB_HUMAN_326 9 326 334 IKIIAPPER PRIDE
ACTB_HUMAN_328 8 328 335 IIAPPERK PRIDE
ACTB_HUMAN_329 7 329 335 IIAPPER PRIDE
ACTB_HUMAN_335 24 335 358 KYSVWIGGSILASLSTFQQMWISK PRIDE
ACTB_HUMAN_335 37 335 371 KYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHR PRIDE
ACTB_HUMAN_359 13 359 371 QEYDESGPSIVHR PRIDE
ACTB_HUMAN_359 14 359 372 QEYDESGPSIVHRK PRIDE
ACTB_HUMAN_360 13 360 372 QEYDESGPSIVHR PRIDE
ACTB_HUMAN_38 25 38 62 PRHQGVMVGMGQKDSYVGDEAQSKR PRIDE
ACTB_HUMAN_39 11 39 49 HQGVMVGMGQK PRIDE
ACTB_HUMAN_39 22 39 60 HQGVMVGMGQKDSYVGDEAQSK PRIDE
ACTB_HUMAN_39 23 39 61 HQGVMVGMGQKDSYVGDEAQSKR PRIDE
ACTB_HUMAN_40 11 40 50 HQGVMVGMGQK PRIDE
ACTB_HUMAN_5 24 5 28 IAALVVDNGSGMCKAGFAGDDAPR PRIDE
ACTB_HUMAN_50 11 50 60 DSYVGDEAQSK PRIDE
ACTB_HUMAN_50 12 50 61 DSYVGDEAQSKR PRIDE
ACTB_HUMAN_51 11 51 61 DSYVGDEAQSK PRIDE
ACTB_HUMAN_51 12 51 62 DSYVGDEAQSKR PRIDE
ACTB_HUMAN_61 7 61 67 RGILTLK PRIDE
ACTB_HUMAN_63 6 63 68 GILTLK PRIDE
ACTB_HUMAN_84 11 84 94 IWHHTFYNELR PRIDE
ACTB_HUMAN_85 11 85 95 IWHHTFYNELR PRIDE
ACTB_HUMAN_87 9 87 95 HHTFYNELR PRIDE
ACTB_HUMAN_9 20 9 28 VVDNGSGMCKAGFAGDDAPR PRIDE
ACTB_HUMAN_95 18 95 112 VAPEEHPVLLTEAPLNPK PRIDE
ACTB_HUMAN_96 18 96 113 VAPEEHPVLLTEAPLNPK PRIDE
ACTB_HUMAN_96 21 96 116 VAPEEHPVLLTEAPLNPKANR PRIDE
PAp00000350 10 19 28 AGFAGDDAPR 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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