AutismKB 2.0

Annotation Detail for ACTL6B


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Basic Information Top
Gene Symbol:ACTL6B ( ACTL6,BAF53B )
Gene Full Name: actin-like 6B
Band: 7q22.1
Quick LinksEntrez ID:51412; OMIM: 612458; Uniprot ID:ACL6B_HUMAN; ENSEMBL ID: ENSG00000077080; HGNC ID: 160
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 body0 / 707610 
blastocyst0 / 623190 
fetus17 / 56401230
neonate0 / 310970 
infant1 / 2362042
juvenile3 / 5555653
adult23 / 193912111
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal55 / 336030716
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain48 / 110098943
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye7 / 21105433
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206013_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.9
Adipocyte4.95
AdrenalCortex5.3
Adrenalgland4.25
Amygdala12.7
Appendix5
AtrioventricularNode3.85
BDCA4+_DentriticCells5.2
Bonemarrow4.95
BronchialEpithelialCells4.65
CD105+_Endothelial5.05
CD14+_Monocytes5.05
CD19+_BCells(neg._sel.)5.4
CD33+_Myeloid6.35
CD34+6.15
CD4+_Tcells5.45
CD56+_NKCells5.7
CD71+_EarlyErythroid4.75
CD8+_Tcells4.75
CardiacMyocytes6.65
Caudatenucleus6.7
Cerebellum39.5
CerebellumPeduncles27.15
CiliaryGanglion3.6
CingulateCortex6.1
Colorectaladenocarcinoma4.8
DorsalRootGanglion3.85
FetalThyroid4.9
Fetalbrain58.35
Fetalliver4.35
Fetallung4.05
GlobusPallidus5.95
Heart6.55
Hypothalamus6.4
Kidney4.25
Leukemia_chronicMyelogenousK-5624.5
Leukemia_promyelocytic-HL-604.45
Leukemialymphoblastic(MOLT-4)4.05
Liver6.65
Lung5.3
Lymphnode4.3
Lymphoma_burkitts(Daudi)6.35
Lymphoma_burkitts(Raji)7.05
MedullaOblongata5.8
OccipitalLobe7.3
OlfactoryBulb3.95
Ovary3.3
Pancreas4.05
PancreaticIslet5.2
ParietalLobe8.85
Pituitary8.1
Placenta4.7
Pons6.65
PrefrontalCortex14.15
Prostate5.85
Salivarygland4
SkeletalMuscle5.9
Skin3.85
SmoothMuscle5.55
Spinalcord5.35
SubthalamicNucleus7.7
SuperiorCervicalGanglion5.65
TemporalLobe4.6
Testis4.2
TestisGermCell3.95
TestisIntersitial4.2
TestisLeydigCell4.95
TestisSeminiferousTubule4.3
Thalamus7.9
Thymus3.9
Thyroid5.75
Tongue5
Tonsil4.8
Trachea4.2
TrigeminalGanglion5
Uterus4.05
UterusCorpus4.5
WholeBlood5.15
Wholebrain74.7
colon5.05
pineal_day10.46
pineal_night7.06
retina5.975
small_intestine4.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8695_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
Amygdala4.27 ± 0.77
Basal Forebrain3.94 ± 0.77
Basal Part of Pons4.94 ± 0.6
Cerebellar Cortex5.13 ± 0.42
Cerebellar Nuclei3.97 ± 0.57
Claustrum3.95 ± 0.95
Epithalamus4.07 ± 0.64
Frontal Lobe4.56 ± 0.72
Globus Pallidus2.62 ± 0.69
Hypothalamus4.42 ± 0.62
Insula4.7 ± 0.46
Limbic Lobe4.37 ± 0.78
Mesencephalon4.26 ± 0.77
Myelencephalon4.29 ± 0.74
Occipital Lobe4.05 ± 0.71
Parietal Lobe4.4 ± 0.75
Pontine Tegmentum4.28 ± 0.68
Striatum3.56 ± 0.75
Subthalamus4.42 ± 0.41
Temporal Lobe4.72 ± 0.6
Thalamus4.12 ± 0.7
White Matter2.36 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Actl6bCBCerebellum45.23
60.09
Actl6bCTXCerebral cortex100
100
Actl6bHIPHippocampal region100
100
Actl6bHPFHippocampal formation100
100
Actl6bHYHypothalamus89.13
74.96
Actl6bLSXLateral septal complex100
79.79
Actl6bMBMidbrain80.34
73.79
Actl6bMYMedulla77.01
83.26
Actl6bOLFOlfactory bulb100
100
Actl6bPPons73.27
73.5
Actl6bPALPallidum97.81
94.54
Actl6bRHPRetrohippocampal region100
100
Actl6bsAMYStriatum-like amygdalar nuclei100
100
Actl6bSTRStriatum100
100
Actl6bSTRdStriatum dorsal region100
100
Actl6bSTRvStriatum ventral region100
100
Actl6bTHThalamus78.85
66.95
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00070763 12 301 312 IPEGLFDPSNVK 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