AutismKB 2.0

Annotation Detail for ACTN1


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Basic Information Top
Gene Symbol:ACTN1 ( FLJ40884,FLJ54432 )
Gene Full Name: actinin, alpha 1
Band: 14q24.1
Quick LinksEntrez ID:87; OMIM: 102575; Uniprot ID:ACTN1_HUMAN; ENSEMBL ID: ENSG00000072110; HGNC ID: 163
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 body74 / 707611045
blastocyst35 / 62319561
fetus94 / 564012166
neonate13 / 31097418
infant2 / 2362084
juvenile11 / 55556197
adult508 / 1939121261
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma3 / 17475171
breast (mammary gland) tumor29 / 94178307
cervical tumor5 / 34366145
chondrosarcoma41 / 82823495
colorectal tumor41 / 114246358
esophageal tumor2 / 17290115
gastrointestinal tumor27 / 119369226
germ cell tumor92 / 263845348
glioma22 / 106883205
head and neck tumor53 / 136302388
kidney tumor27 / 68959391
leukemia32 / 95842333
liver tumor37 / 96359383
lung tumor29 / 103127281
lymphoma1 / 7175513
non-neoplasia17 / 97250174
normal764 / 3360307227
ovarian tumor14 / 76682182
pancreatic tumor49 / 104616468
primitive neuroectodermal tumor of the CNS39 / 125680310
prostate cancer21 / 102680204
retinoblastoma3 / 4635664
skin tumor50 / 124949400
soft tissue/muscle tissue tumor50 / 125191399
uterine tumor25 / 90257276
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue5 / 13106381
adrenal gland2 / 3319760
ascites3 / 4001574
bladder4 / 29757134
blood32 / 123478259
bone22 / 71655307
bone marrow10 / 48801204
brain241 / 1100989218
cervix12 / 48171249
connective tissue48 / 149255321
ear2 / 16212123
embryonic tissue127 / 215722588
esophagus3 / 20209148
eye36 / 211054170
heart14 / 89626156
intestine77 / 234472328
kidney78 / 211777368
larynx5 / 24145207
liver47 / 207743226
lung103 / 336974305
lymph0 / 442700 
lymph node5 / 9161054
mammary gland54 / 153271352
mouth43 / 67052641
muscle20 / 107715185
nerve2 / 15768126
ovary20 / 102051195
pancreas57 / 214812265
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta61 / 280825217
prostate45 / 189345237
salivary gland4 / 20155198
skin102 / 210574484
spleen11 / 53952203
stomach20 / 96619206
testis78 / 330442236
thymus25 / 81131308
thyroid11 / 47473231
tonsil0 / 169990 
trachea22 / 52413419
umbilical cord1 / 1368073
uterus105 / 232878450
vascular16 / 51780308
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208636_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.65
Adipocyte577.9
AdrenalCortex32.1
Adrenalgland118.85
Amygdala597.6
Appendix378.75
AtrioventricularNode54.1
BDCA4+_DentriticCells79.75
Bonemarrow704.85
BronchialEpithelialCells1855.6
CD105+_Endothelial113.6
CD14+_Monocytes384.25
CD19+_BCells(neg._sel.)14.05
CD33+_Myeloid571.5
CD34+558.1
CD4+_Tcells528.55
CD56+_NKCells28.1
CD71+_EarlyErythroid12.9
CD8+_Tcells559.7
CardiacMyocytes859.95
Caudatenucleus323.5
Cerebellum12.5
CerebellumPeduncles16.85
CiliaryGanglion73.3
CingulateCortex176.15
Colorectaladenocarcinoma3528.9
DorsalRootGanglion15.85
FetalThyroid47.35
Fetalbrain30.3
Fetalliver119.6
Fetallung436.9
GlobusPallidus22.5
Heart139.9
Hypothalamus88.25
Kidney44.5
Leukemia_chronicMyelogenousK-56280.75
Leukemia_promyelocytic-HL-609.95
Leukemialymphoblastic(MOLT-4)54.9
Liver188.4
Lung600.4
Lymphnode280.65
Lymphoma_burkitts(Daudi)17.6
Lymphoma_burkitts(Raji)20.25
MedullaOblongata175.05
OccipitalLobe152.95
OlfactoryBulb86.7
Ovary96.4
Pancreas137.05
PancreaticIslet332.35
ParietalLobe45.1
Pituitary62.25
Placenta546.35
Pons75.7
PrefrontalCortex688.05
Prostate1738.55
Salivarygland285.8
SkeletalMuscle16.85
Skin115
SmoothMuscle1761.65
Spinalcord24.7
SubthalamicNucleus114.25
SuperiorCervicalGanglion28.05
TemporalLobe67.95
Testis140.6
TestisGermCell143.45
TestisIntersitial62.55
TestisLeydigCell46.6
TestisSeminiferousTubule61.15
Thalamus68
Thymus153.7
Thyroid232.55
Tongue38.55
Tonsil114.6
Trachea317.45
TrigeminalGanglion25.05
Uterus1967.7
UterusCorpus281.25
WholeBlood1835.45
Wholebrain346.45
colon955.75
pineal_day139.66
pineal_night183.86
retina567.8
small_intestine848
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P105957
  • 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
Amygdala8.12 ± 0.67
Basal Forebrain7.8 ± 0.67
Basal Part of Pons7.74 ± 0.38
Cerebellar Cortex7.32 ± 0.2
Cerebellar Nuclei6.93 ± 0.79
Claustrum8.18 ± 0.52
Epithalamus7.62 ± 0.29
Frontal Lobe7.95 ± 0.54
Globus Pallidus6.3 ± 1.07
Hypothalamus7.71 ± 0.57
Insula8.09 ± 0.37
Limbic Lobe8.02 ± 0.8
Mesencephalon7.48 ± 0.47
Myelencephalon7.85 ± 0.54
Occipital Lobe7.78 ± 0.51
Parietal Lobe7.82 ± 0.64
Pontine Tegmentum7.85 ± 0.68
Striatum8.92 ± 0.53
Subthalamus7.72 ± 0.32
Temporal Lobe8.15 ± 0.46
Thalamus7.75 ± 0.48
White Matter5.94 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Actn1CBCerebellum28.27
37.52
Actn1CTXCerebral cortex100
100
Actn1HIPHippocampal region100
100
Actn1HPFHippocampal formation100
100
Actn1HYHypothalamus33.18
29.87
Actn1LSXLateral septal complex100
100
Actn1MBMidbrain47.6
45.97
Actn1MYMedulla48.66
56.47
Actn1OLFOlfactory bulb100
100
Actn1PPons35.79
39.06
Actn1PALPallidum38.62
42.62
Actn1RHPRetrohippocampal region90.14
100
Actn1sAMYStriatum-like amygdalar nuclei100
100
Actn1STRStriatum100
100
Actn1STRdStriatum dorsal region100
100
Actn1STRvStriatum ventral region100
100
Actn1THThalamus34.92
38.87
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ACTN1_HUMAN_0 0 0 0 AIMTYVSSFYHAFSGAQK PRIDE
ACTN1_HUMAN_0 0 0 0 ASFNHFDRDHSGTLGPEEFK PRIDE
ACTN1_HUMAN_0 0 0 0 FAIQDISVEETSAK PRIDE
ACTN1_HUMAN_0 0 0 0 HRPELIDYGK PRIDE
ACTN1_HUMAN_0 0 0 0 KDDPLTNLNTAFDVAEK PRIDE
ACTN1_HUMAN_0 0 0 0 LAILGIHNEVSK PRIDE
ACTN1_HUMAN_0 0 0 0 LASDLLEWIR PRIDE
ACTN1_HUMAN_0 0 0 0 TINEVENQILTR PRIDE
ACTN1_HUMAN_0 0 0 0 VGWEQLLTTIAR PRIDE
ACTN1_HUMAN_1 21 1 21 MDHYDSQQTNDYMQPEEDWDR PRIDE
ACTN1_HUMAN_106 15 106 120 LVSIGAEEIVDGNVK PRIDE
ACTN1_HUMAN_107 15 107 121 LVSIGAEEIVDGNVK PRIDE
ACTN1_HUMAN_133 14 133 146 FAIQDISVEETSAK PRIDE
ACTN1_HUMAN_134 14 134 147 FAIQDISVEETSAK PRIDE
ACTN1_HUMAN_147 9 147 155 EGLLLWCQR PRIDE
ACTN1_HUMAN_162 12 162 173 NVNIQNFHISWK PRIDE
ACTN1_HUMAN_174 11 174 184 DGLGFCALIHR PRIDE
ACTN1_HUMAN_185 10 185 194 HRPELIDYGK PRIDE
ACTN1_HUMAN_197 17 197 213 KDDPLTNLNTAFDVAEK PRIDE
ACTN1_HUMAN_197 23 197 219 KDDPLTNLNTAFDVAEKYLDIPK PRIDE
ACTN1_HUMAN_198 16 198 213 DDPLTNLNTAFDVAEK PRIDE
ACTN1_HUMAN_199 16 199 214 DDPLTNLNTAFDVAEK PRIDE
ACTN1_HUMAN_21 10 21 30 DLLLDPAWEK PRIDE
ACTN1_HUMAN_215 6 215 220 YLDIPK PRIDE
ACTN1_HUMAN_220 16 220 235 MLDAEDIVGTARPDEK PRIDE
ACTN1_HUMAN_236 18 236 253 AIMTYVSSFYHAFSGAQK PRIDE
ACTN1_HUMAN_237 18 237 254 AIMTYVSSFYHAFSGAQK PRIDE
ACTN1_HUMAN_250 12 250 261 SGAQKAETAANR PRIDE
ACTN1_HUMAN_264 17 264 280 VLAVNQENEQLMEDYEK PRIDE
ACTN1_HUMAN_264 28 264 291 VLAVNQENEQLMEDYEKLASDLLEWIRR PRIDE
ACTN1_HUMAN_265 17 265 281 VLAVNQENEQLMEDYEK PRIDE
ACTN1_HUMAN_281 10 281 290 LASDLLEWIR PRIDE
ACTN1_HUMAN_281 11 281 291 LASDLLEWIRR PRIDE
ACTN1_HUMAN_282 10 282 291 LASDLLEWIR PRIDE
ACTN1_HUMAN_292 20 292 311 TIPWLENRVPENTMHAMQQK PRIDE
ACTN1_HUMAN_293 8 293 300 TIPWLENR PRIDE
ACTN1_HUMAN_300 12 300 311 VPENTMHAMQQK PRIDE
ACTN1_HUMAN_301 12 301 312 VPENTMHAMQQK PRIDE
ACTN1_HUMAN_331 13 331 343 CQLEINFNTLQTK PRIDE
ACTN1_HUMAN_34 12 34 45 KTFTAWCNSHLR PRIDE
ACTN1_HUMAN_346 13 346 358 LSNRPAFMPSEGR PRIDE
ACTN1_HUMAN_347 13 347 359 LSNRPAFMPSEGR PRIDE
ACTN1_HUMAN_35 11 35 45 TFTAWCNSHLR PRIDE
ACTN1_HUMAN_351 9 351 359 PAFMPSEGR PRIDE
ACTN1_HUMAN_359 17 359 375 MVSDINNAWGCLEQVEK PRIDE
ACTN1_HUMAN_376 11 376 386 GYEEWLLNEIR PRIDE
ACTN1_HUMAN_377 11 377 387 GYEEWLLNEIR PRIDE
ACTN1_HUMAN_402 11 402 412 ASIHEAWTDGK PRIDE
ACTN1_HUMAN_402 16 402 417 ASIHEAWTDGKEAMLR PRIDE
ACTN1_HUMAN_418 13 418 430 QKDYETATLSEIK PRIDE
ACTN1_HUMAN_435 15 435 449 KHEAFESDLAAHQDR PRIDE
ACTN1_HUMAN_435 40 435 474 KHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNAR PRIDE
ACTN1_HUMAN_46 18 46 63 KAGTQIENIEEDFRDGLK PRIDE
ACTN1_HUMAN_47 17 47 63 AGTQIENIEEDFRDGLK PRIDE
ACTN1_HUMAN_478 14 478 491 ICDQWDNLGALTQK PRIDE
ACTN1_HUMAN_48 13 48 60 AGTQIENIEEDFR PRIDE
ACTN1_HUMAN_499 17 499 515 TEKLLETIDQLYLEYAK PRIDE
ACTN1_HUMAN_499 18 499 516 TEKLLETIDQLYLEYAKR PRIDE
ACTN1_HUMAN_502 14 502 515 LLETIDQLYLEYAK PRIDE
ACTN1_HUMAN_502 15 502 516 LLETIDQLYLEYAKR PRIDE
ACTN1_HUMAN_516 39 516 554 RAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFK PRIDE
ACTN1_HUMAN_517 38 517 554 AAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFK PRIDE
ACTN1_HUMAN_556 10 556 565 ATLPDADKER PRIDE
ACTN1_HUMAN_565 12 565 576 LAILGIHNEVSK PRIDE
ACTN1_HUMAN_578 26 578 603 IVQTYHVNMAGTNPYTTITPQEINGK PRIDE
ACTN1_HUMAN_614 11 614 624 RDQALTEEHAR PRIDE
ACTN1_HUMAN_632 17 632 648 KQFGAQANVIGPWIQTK PRIDE
ACTN1_HUMAN_633 16 633 648 QFGAQANVIGPWIQTK PRIDE
ACTN1_HUMAN_64 12 64 75 LMLLLEVISGER PRIDE
ACTN1_HUMAN_655 17 655 671 ISIEMHGTLEDQLSHLR PRIDE
ACTN1_HUMAN_656 17 656 672 ISIEMHGTLEDQLSHLR PRIDE
ACTN1_HUMAN_684 20 684 703 IDQLEGDHQLIQEALIFDNK PRIDE
ACTN1_HUMAN_685 20 685 704 IDQLEGDHQLIQEALIFDNK PRIDE
ACTN1_HUMAN_705 10 705 714 HTNYTMEHIR PRIDE
ACTN1_HUMAN_714 12 714 725 VGWEQLLTTIAR PRIDE
ACTN1_HUMAN_715 12 715 726 VGWEQLLTTIAR PRIDE
ACTN1_HUMAN_718 9 718 726 EQLLTTIAR PRIDE
ACTN1_HUMAN_726 12 726 737 TINEVENQILTR PRIDE
ACTN1_HUMAN_727 12 727 738 TINEVENQILTR PRIDE
ACTN1_HUMAN_741 11 741 751 GISQEQMNEFR PRIDE
ACTN1_HUMAN_742 11 742 752 GISQEQMNEFR PRIDE
ACTN1_HUMAN_752 20 752 771 ASFNHFDRDHSGTLGPEEFK PRIDE
ACTN1_HUMAN_753 8 753 760 ASFNHFDR PRIDE
ACTN1_HUMAN_794 24 794 817 IMSIVDPNRLGVVTFQAFIDFMSR PRIDE
ACTN1_HUMAN_795 9 795 803 IMSIVDPNR PRIDE
ACTN1_HUMAN_803 15 803 817 LGVVTFQAFIDFMSR PRIDE
ACTN1_HUMAN_818 16 818 833 ETADTDTADQVMASFK PRIDE
ACTN1_HUMAN_819 16 819 834 ETADTDTADQVMASFK PRIDE
ACTN1_HUMAN_834 15 834 848 ILAGDKNYITMDELR PRIDE
ACTN1_HUMAN_834 16 834 849 ILAGDKNYITMDELRR PRIDE
ACTN1_HUMAN_835 15 835 849 ILAGDKNYITMDELR PRIDE
ACTN1_HUMAN_841 9 841 849 NYITMDELR PRIDE
ACTN1_HUMAN_850 13 850 862 ELPPDQAEYCIAR PRIDE
ACTN1_HUMAN_856 8 856 863 QAEYCIAR PRIDE
ACTN1_HUMAN_95 8 95 102 ALDFIASK PRIDE
PAp00000439 18 237 254 AIMTYVSSFYHAFSGAQK 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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