AutismKB 2.0

Annotation Detail for ACTN4


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Basic Information Top
Gene Symbol:ACTN4 ( ACTININ-4,DKFZp686K23158,FSGS,FSGS1 )
Gene Full Name: actinin, alpha 4
Band: 19q13.2
Quick LinksEntrez ID:81; OMIM: 604638; Uniprot ID:ACTN4_HUMAN; ENSEMBL ID: ENSG00000130402; HGNC ID: 166
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 body45 / 70761635
blastocyst16 / 62319256
fetus41 / 56401272
neonate1 / 3109732
infant1 / 2362042
juvenile7 / 55556125
adult479 / 1939121247
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma3 / 17475171
breast (mammary gland) tumor47 / 94178499
cervical tumor4 / 34366116
chondrosarcoma24 / 82823289
colorectal tumor55 / 114246481
esophageal tumor3 / 17290173
gastrointestinal tumor24 / 119369201
germ cell tumor23 / 26384587
glioma11 / 106883102
head and neck tumor41 / 136302300
kidney tumor16 / 68959232
leukemia29 / 95842302
liver tumor20 / 96359207
lung tumor49 / 103127475
lymphoma1 / 7175513
non-neoplasia6 / 9725061
normal392 / 3360307116
ovarian tumor21 / 76682273
pancreatic tumor53 / 104616506
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer33 / 102680321
retinoblastoma4 / 4635686
skin tumor39 / 124949312
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor28 / 90257310
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites6 / 40015149
bladder8 / 29757268
blood29 / 123478234
bone24 / 71655334
bone marrow10 / 48801204
brain56 / 110098950
cervix5 / 48171103
connective tissue12 / 14925580
ear1 / 1621261
embryonic tissue77 / 215722356
esophagus3 / 20209148
eye35 / 211054165
heart5 / 8962655
intestine76 / 234472324
kidney35 / 211777165
larynx12 / 24145496
liver32 / 207743154
lung77 / 336974228
lymph1 / 4427022
lymph node13 / 91610141
mammary gland59 / 153271384
mouth4 / 6705259
muscle8 / 10771574
nerve6 / 15768380
ovary20 / 102051195
pancreas62 / 214812288
parathyroid1 / 2053948
pharynx9 / 41328217
pituitary gland0 / 165850 
placenta54 / 280825192
prostate50 / 189345264
salivary gland0 / 201550 
skin60 / 210574284
spleen5 / 5395292
stomach19 / 96619196
testis3 / 3304429
thymus0 / 811310 
thyroid23 / 47473484
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus45 / 232878193
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200601_at
Cell line Expression level Expression bar
721_B_lymphoblasts156.25
Adipocyte185.35
AdrenalCortex456.75
Adrenalgland185.25
Amygdala94.3
Appendix204.2
AtrioventricularNode76.3
BDCA4+_DentriticCells305
Bonemarrow120.15
BronchialEpithelialCells489.15
CD105+_Endothelial164.35
CD14+_Monocytes233.25
CD19+_BCells(neg._sel.)183.25
CD33+_Myeloid294.8
CD34+227.25
CD4+_Tcells102.7
CD56+_NKCells524.8
CD71+_EarlyErythroid135.15
CD8+_Tcells116.95
CardiacMyocytes312.55
Caudatenucleus84.3
Cerebellum45.5
CerebellumPeduncles128.2
CiliaryGanglion58.95
CingulateCortex163.75
Colorectaladenocarcinoma3218.55
DorsalRootGanglion68.6
FetalThyroid359.45
Fetalbrain63.35
Fetalliver69.3
Fetallung195.45
GlobusPallidus36.4
Heart82.55
Hypothalamus134.1
Kidney207.8
Leukemia_chronicMyelogenousK-562271.85
Leukemia_promyelocytic-HL-6082.75
Leukemialymphoblastic(MOLT-4)26.1
Liver136.7
Lung503.15
Lymphnode70.05
Lymphoma_burkitts(Daudi)75.25
Lymphoma_burkitts(Raji)139.75
MedullaOblongata161
OccipitalLobe131.55
OlfactoryBulb269
Ovary121.8
Pancreas250.7
PancreaticIslet219.35
ParietalLobe128.7
Pituitary107.7
Placenta515.45
Pons118.2
PrefrontalCortex434.85
Prostate471.2
Salivarygland70
SkeletalMuscle24.05
Skin192.2
SmoothMuscle571.05
Spinalcord111.65
SubthalamicNucleus93.15
SuperiorCervicalGanglion60.85
TemporalLobe99.95
Testis62.15
TestisGermCell100.95
TestisIntersitial106.8
TestisLeydigCell80.25
TestisSeminiferousTubule47.55
Thalamus92.65
Thymus110.5
Thyroid584.7
Tongue245.1
Tonsil182.35
Trachea161.35
TrigeminalGanglion92.55
Uterus554
UterusCorpus113.55
WholeBlood441.35
Wholebrain161.9
colon347
pineal_day225.5
pineal_night213.62
retina394.15
small_intestine240.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P101655
  • 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
Amygdala6.37 ± 0.48
Basal Forebrain6.91 ± 0.23
Basal Part of Pons7.19 ± 0.48
Cerebellar Cortex6.7 ± 0.4
Cerebellar Nuclei7.31 ± 0.43
Claustrum6.77 ± 0.85
Epithalamus7.44 ± 0.47
Frontal Lobe7.04 ± 0.46
Globus Pallidus7.11 ± 0.29
Hypothalamus6.7 ± 0.35
Insula6.84 ± 0.31
Limbic Lobe6.6 ± 0.46
Mesencephalon6.82 ± 0.47
Myelencephalon6.99 ± 0.41
Occipital Lobe7.09 ± 0.42
Parietal Lobe6.96 ± 0.45
Pontine Tegmentum6.91 ± 0.45
Striatum7.11 ± 0.35
Subthalamus6.83 ± 0.22
Temporal Lobe6.91 ± 0.44
Thalamus7.08 ± 0.36
White Matter8.07 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Actn4CBCerebellum8.31
7.6
Actn4CTXCerebral cortex57.61
44.68
Actn4HIPHippocampal region29.88
32.34
Actn4HPFHippocampal formation33.08
32.21
Actn4HYHypothalamus3.7
4.21
Actn4LSXLateral septal complex3.01
1.91
Actn4MBMidbrain2.22
2.11
Actn4MYMedulla10.93
10.78
Actn4OLFOlfactory bulb48.86
38.8
Actn4PPons16.38
18.94
Actn4PALPallidum7.31
6.75
Actn4RHPRetrohippocampal region38.74
31.7
Actn4sAMYStriatum-like amygdalar nuclei23.84
15.54
Actn4STRStriatum14.43
9.92
Actn4STRdStriatum dorsal region11.92
7.9
Actn4STRvStriatum ventral region20.75
14.51
Actn4THThalamus2.96
2.05
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ACTN4_HUMAN_0 0 0 0 AIMTYVSSFYHAFSGAQK PRIDE
ACTN4_HUMAN_0 0 0 0 CQLEINFNTLQTK PRIDE
ACTN4_HUMAN_0 0 0 0 FAIQDISVEETSAK PRIDE
ACTN4_HUMAN_0 0 0 0 GYEEWLLNEIR PRIDE
ACTN4_HUMAN_0 0 0 0 KTFTAWCNSHLR PRIDE
ACTN4_HUMAN_0 0 0 0 LASDLLEWIR PRIDE
ACTN4_HUMAN_0 0 0 0 LVSIGAEEIVDGNAK PRIDE
ACTN4_HUMAN_0 0 0 0 SIVDYKPNLDLLEQQHQLIQEALIFDNK PRIDE
ACTN4_HUMAN_0 0 0 0 TINEVENQILTR PRIDE
ACTN4_HUMAN_0 0 0 0 VGWEQLLTTIAR PRIDE
ACTN4_HUMAN_114 8 114 121 ALDFIASK PRIDE
ACTN4_HUMAN_125 15 125 139 LVSIGAEEIVDGNAK PRIDE
ACTN4_HUMAN_126 15 126 140 LVSIGAEEIVDGNAK PRIDE
ACTN4_HUMAN_152 14 152 165 FAIQDISVEETSAK PRIDE
ACTN4_HUMAN_153 14 153 166 FAIQDISVEETSAK PRIDE
ACTN4_HUMAN_166 9 166 174 EGLLLWCQR PRIDE
ACTN4_HUMAN_167 9 167 175 EGLLLWCQR PRIDE
ACTN4_HUMAN_181 12 181 192 NVNVQNFHISWK PRIDE
ACTN4_HUMAN_193 11 193 203 DGLAFNALIHR PRIDE
ACTN4_HUMAN_194 11 194 204 DGLAFNALIHR PRIDE
ACTN4_HUMAN_216 17 216 232 KDDPVTNLNNAFEVAEK PRIDE
ACTN4_HUMAN_239 16 239 254 MLDAEDIVNTARPDEK PRIDE
ACTN4_HUMAN_255 18 255 272 AIMTYVSSFYHAFSGAQK PRIDE
ACTN4_HUMAN_256 18 256 273 AIMTYVSSFYHAFSGAQK PRIDE
ACTN4_HUMAN_283 17 283 299 VLAVNQENEHLMEDYEK PRIDE
ACTN4_HUMAN_284 17 284 300 VLAVNQENEHLMEDYEK PRIDE
ACTN4_HUMAN_300 10 300 309 LASDLLEWIR PRIDE
ACTN4_HUMAN_300 11 300 310 LASDLLEWIRR PRIDE
ACTN4_HUMAN_301 10 301 310 LASDLLEWIR PRIDE
ACTN4_HUMAN_323 13 323 335 TIQEMQQKLEDFR PRIDE
ACTN4_HUMAN_324 8 324 331 TIQEMQQK PRIDE
ACTN4_HUMAN_350 13 350 362 CQLEINFNTLQTK PRIDE
ACTN4_HUMAN_365 13 365 377 LSNRPAFMPSEGK PRIDE
ACTN4_HUMAN_395 11 395 405 GYEEWLLNEIR PRIDE
ACTN4_HUMAN_396 11 396 406 GYEEWLLNEIR PRIDE
ACTN4_HUMAN_40 10 40 49 DLLLDPAWEK PRIDE
ACTN4_HUMAN_411 9 411 419 LDHLAEKFR PRIDE
ACTN4_HUMAN_421 11 421 431 ASIHEAWTDGK PRIDE
ACTN4_HUMAN_421 16 421 436 ASIHEAWTDGKEAMLK PRIDE
ACTN4_HUMAN_437 13 437 449 HRDYETATLSDIK PRIDE
ACTN4_HUMAN_439 11 439 449 DYETATLSDIK PRIDE
ACTN4_HUMAN_454 15 454 468 KHEAFESDLAAHQDR PRIDE
ACTN4_HUMAN_454 40 454 493 KHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSHNVNTR PRIDE
ACTN4_HUMAN_455 15 455 469 KHEAFESDLAAHQDR PRIDE
ACTN4_HUMAN_497 15 497 511 ICDQWDALGSLTHSR PRIDE
ACTN4_HUMAN_497 16 497 512 ICDQWDALGSLTHSRR PRIDE
ACTN4_HUMAN_521 15 521 535 QLEAIDQLHLEYAKR PRIDE
ACTN4_HUMAN_522 14 522 535 QLEAIDQLHLEYAK PRIDE
ACTN4_HUMAN_522 15 522 536 QLEAIDQLHLEYAKR PRIDE
ACTN4_HUMAN_53 12 53 64 KTFTAWCNSHLR PRIDE
ACTN4_HUMAN_54 11 54 64 TFTAWCNSHLR PRIDE
ACTN4_HUMAN_604 18 604 621 LSGSNPYTTVTPQIINSK PRIDE
ACTN4_HUMAN_624 10 624 633 EKVQQLVPKR PRIDE
ACTN4_HUMAN_633 11 633 643 RDHALLEEQSK PRIDE
ACTN4_HUMAN_644 8 644 651 QQSNEHLR PRIDE
ACTN4_HUMAN_652 16 652 667 QFASQANVVGPWIQTK PRIDE
ACTN4_HUMAN_66 17 66 82 AGTQIENIDEDFRDGLK PRIDE
ACTN4_HUMAN_695 28 695 722 SIVDYKPNLDLLEQQHQLIQEALIFDNK PRIDE
ACTN4_HUMAN_695 38 695 732 SIVDYKPNLDLLEQQHQLIQEALIFDNKHTNYTMEHIR PRIDE
ACTN4_HUMAN_724 10 724 733 HTNYTMEHIR PRIDE
ACTN4_HUMAN_733 12 733 744 VGWEQLLTTIAR PRIDE
ACTN4_HUMAN_734 12 734 745 VGWEQLLTTIAR PRIDE
ACTN4_HUMAN_745 12 745 756 TINEVENQILTR PRIDE
ACTN4_HUMAN_746 12 746 757 TINEVENQILTR PRIDE
ACTN4_HUMAN_760 11 760 770 GISQEQMQEFR PRIDE
ACTN4_HUMAN_761 11 761 771 GISQEQMQEFR PRIDE
ACTN4_HUMAN_771 20 771 790 ASFNHFDKDHGGALGPEEFK PRIDE
ACTN4_HUMAN_791 14 791 804 ACLISLGYDVENDR PRIDE
ACTN4_HUMAN_791 22 791 812 ACLISLGYDVENDRQGEAEFNR PRIDE
ACTN4_HUMAN_806 8 806 813 QGEAEFNR PRIDE
ACTN4_HUMAN_813 24 813 836 IMSLVDPNHSGLVTFQAFIDFMSR PRIDE
ACTN4_HUMAN_83 12 83 94 LMLLLEVISGER PRIDE
ACTN4_HUMAN_83 18 83 100 LMLLLEVISGERLPKPER PRIDE
ACTN4_HUMAN_837 16 837 852 ETTDTDTADQVIASFK PRIDE
ACTN4_HUMAN_838 16 838 853 ETTDTDTADQVIASFK PRIDE
ACTN4_HUMAN_84 12 84 95 LMLLLEVISGER PRIDE
ACTN4_HUMAN_853 15 853 867 VLAGDKNFITAEELR PRIDE
ACTN4_HUMAN_853 16 853 868 VLAGDKNFITAEELRR PRIDE
ACTN4_HUMAN_860 9 860 868 NFITAEELR PRIDE
ACTN4_HUMAN_869 13 869 881 ELPPDQAEYCIAR PRIDE
ACTN4_HUMAN_870 13 870 882 ELPPDQAEYCIAR PRIDE
ACTN4_HUMAN_882 17 882 898 MAPYQGPDAVPGALDYK PRIDE
ACTN4_HUMAN_902 10 902 911 STALYGESDL PRIDE
PAp00000221 14 792 805 ACLISLGYDVENDR 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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