AutismKB 2.0

Annotation Detail for SMARCA5


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Basic Information Top
Gene Symbol:SMARCA5 ( ISWI,SNF2H,WCRF135,hISWI,hSNF2H )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
Band: 4q31.21
Quick LinksEntrez ID:8467; OMIM: 603375; Uniprot ID:SMCA5_HUMAN; ENSEMBL ID: ENSG00000153147; HGNC ID: 11101
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 body15 / 70761211
blastocyst24 / 62319385
fetus57 / 564012101
neonate2 / 3109764
infant0 / 236200 
juvenile7 / 55556125
adult173 / 193912189
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma8 / 8282396
colorectal tumor9 / 11424678
esophageal tumor3 / 17290173
gastrointestinal tumor7 / 11936958
germ cell tumor55 / 263845208
glioma3 / 10688328
head and neck tumor14 / 136302102
kidney tumor4 / 6895958
leukemia4 / 9584241
liver tumor8 / 9635983
lung tumor1 / 1031279
lymphoma4 / 7175555
non-neoplasia5 / 9725051
normal358 / 3360307106
ovarian tumor1 / 7668213
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer5 / 10268048
retinoblastoma4 / 4635686
skin tumor12 / 12494996
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland4 / 33197120
ascites2 / 4001549
bladder4 / 29757134
blood5 / 12347840
bone6 / 7165583
bone marrow6 / 48801122
brain117 / 1100989106
cervix1 / 4817120
connective tissue10 / 14925566
ear5 / 16212308
embryonic tissue51 / 215722236
esophagus3 / 20209148
eye15 / 21105471
heart8 / 8962689
intestine15 / 23447263
kidney20 / 21177794
larynx1 / 2414541
liver10 / 20774348
lung23 / 33697468
lymph1 / 4427022
lymph node22 / 91610240
mammary gland12 / 15327178
mouth14 / 67052208
muscle2 / 10771518
nerve3 / 15768190
ovary1 / 1020519
pancreas15 / 21481269
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta22 / 28082578
prostate11 / 18934558
salivary gland2 / 2015599
skin17 / 21057480
spleen2 / 5395237
stomach1 / 9661910
testis92 / 330442278
thymus10 / 81131123
thyroid2 / 4747342
tonsil0 / 169990 
trachea15 / 52413286
umbilical cord0 / 136800 
uterus25 / 232878107
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202303_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts143.5
Adipocyte8.35
AdrenalCortex8.9
Adrenalgland6.5
Amygdala7.85
Appendix8.4
AtrioventricularNode6.85
BDCA4+_DentriticCells74.45
Bonemarrow7.5
BronchialEpithelialCells20.95
CD105+_Endothelial100.55
CD14+_Monocytes16.7
CD19+_BCells(neg._sel.)42.35
CD33+_Myeloid27.95
CD34+95.6
CD4+_Tcells58.65
CD56+_NKCells55.5
CD71+_EarlyErythroid37.7
CD8+_Tcells48.05
CardiacMyocytes13.25
Caudatenucleus7
Cerebellum5.35
CerebellumPeduncles8.75
CiliaryGanglion6.2
CingulateCortex7.6
Colorectaladenocarcinoma7.95
DorsalRootGanglion6.45
FetalThyroid8.15
Fetalbrain9.35
Fetalliver10.2
Fetallung38.35
GlobusPallidus5.8
Heart10.1
Hypothalamus8.5
Kidney5.9
Leukemia_chronicMyelogenousK-5629.55
Leukemia_promyelocytic-HL-6029.3
Leukemialymphoblastic(MOLT-4)56.55
Liver10.15
Lung8.35
Lymphnode6.95
Lymphoma_burkitts(Daudi)36.6
Lymphoma_burkitts(Raji)12.8
MedullaOblongata7
OccipitalLobe7.1
OlfactoryBulb6.15
Ovary5.8
Pancreas8.15
PancreaticIslet20.9
ParietalLobe9.35
Pituitary15.8
Placenta7
Pons7.15
PrefrontalCortex10.65
Prostate8
Salivarygland6.75
SkeletalMuscle9.45
Skin6.6
SmoothMuscle13.65
Spinalcord8.35
SubthalamicNucleus8.05
SuperiorCervicalGanglion9.65
TemporalLobe6.75
Testis6.3
TestisGermCell65.8
TestisIntersitial12.2
TestisLeydigCell15.15
TestisSeminiferousTubule25.9
Thalamus8
Thymus5.3
Thyroid9.6
Tongue7.45
Tonsil8.25
Trachea6.55
TrigeminalGanglion9.3
Uterus6.25
UterusCorpus7.15
WholeBlood12.4
Wholebrain5.6
colon7.85
pineal_day54.9
pineal_night36.72
retina9.575
small_intestine7.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6479_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
Amygdala9.22 ± 0.21
Basal Forebrain9.19 ± 0.24
Basal Part of Pons8.93 ± 0.21
Cerebellar Cortex8.91 ± 0.15
Cerebellar Nuclei9.3 ± 0.28
Claustrum9.4 ± 0.3
Epithalamus9.3 ± 0.36
Frontal Lobe9.01 ± 0.3
Globus Pallidus9.83 ± 0.14
Hypothalamus9.19 ± 0.2
Insula9.04 ± 0.24
Limbic Lobe9.1 ± 0.27
Mesencephalon9.33 ± 0.2
Myelencephalon9.15 ± 0.29
Occipital Lobe9.34 ± 0.27
Parietal Lobe9.14 ± 0.25
Pontine Tegmentum9.15 ± 0.25
Striatum9.33 ± 0.26
Subthalamus9.42 ± 0.23
Temporal Lobe9.03 ± 0.27
Thalamus9.1 ± 0.24
White Matter10.19 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smarca5CBCerebellum25.49
28.5
Smarca5CTXCerebral cortex55.12
40.71
Smarca5HIPHippocampal region45.57
78.63
Smarca5HPFHippocampal formation45.46
59.37
Smarca5HYHypothalamus47.45
39.06
Smarca5LSXLateral septal complex37.31
27.65
Smarca5MBMidbrain40.38
35.48
Smarca5MYMedulla48.1
49.57
Smarca5OLFOlfactory bulb49.99
41.36
Smarca5PPons38.43
39.98
Smarca5PALPallidum32.17
27.97
Smarca5RHPRetrohippocampal region46.29
37.92
Smarca5sAMYStriatum-like amygdalar nuclei32.78
23.89
Smarca5STRStriatum32.05
22.99
Smarca5STRdStriatum dorsal region29.96
21.64
Smarca5STRvStriatum ventral region37.34
25.44
Smarca5THThalamus32.48
29.8
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001221 9 891 899 CNELQDIEK Peptide Atlas
SMCA5_HUMAN_227 12 227 238 NIPGPHMVLVPK PRIDE
SMCA5_HUMAN_35 35 35 69 GGPEGVAAQAVASAASAGPADAEMEEIFDDASPGK PRIDE
SMCA5_HUMAN_750 9 750 758 EALRVSEPK PRIDE
SMCA5_HUMAN_98 22 98 119 QTELFAHFIQPAAQKTPTSPLK PRIDE

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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