AutismKB 2.0

Annotation Detail for SMARCAL1


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Basic Information Top
Gene Symbol:SMARCAL1 ( HARP,HHARP )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
Band: 2q35
Quick LinksEntrez ID:50485; OMIM: 606622; Uniprot ID:SMAL1_HUMAN; ENSEMBL ID: ENSG00000138375; HGNC ID: 11102
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 body3 / 7076142
blastocyst2 / 6231932
fetus21 / 56401237
neonate4 / 31097128
infant2 / 2362084
juvenile1 / 5555617
adult64 / 193912133
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) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor18 / 26384568
glioma5 / 10688346
head and neck tumor6 / 13630244
kidney tumor3 / 6895943
leukemia3 / 9584231
liver tumor5 / 9635951
lung tumor5 / 10312748
lymphoma6 / 7175583
non-neoplasia8 / 9725082
normal89 / 336030726
ovarian tumor3 / 7668239
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood6 / 12347848
bone0 / 716550 
bone marrow10 / 48801204
brain37 / 110098933
cervix3 / 4817162
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye4 / 21105418
heart1 / 8962611
intestine7 / 23447229
kidney6 / 21177728
larynx1 / 2414541
liver5 / 20774324
lung12 / 33697435
lymph2 / 4427045
lymph node2 / 9161021
mammary gland5 / 15327132
mouth6 / 6705289
muscle4 / 10771537
nerve0 / 157680 
ovary3 / 10205129
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta11 / 28082539
prostate2 / 18934510
salivary gland0 / 201550 
skin4 / 21057418
spleen1 / 5395218
stomach0 / 966190 
testis34 / 330442102
thymus5 / 8113161
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord2 / 13680146
uterus7 / 23287830
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218452_at
Cell line Expression level Expression bar
721_B_lymphoblasts47.8
Adipocyte20.75
AdrenalCortex18.05
Adrenalgland17.55
Amygdala19.1
Appendix15.85
AtrioventricularNode12.75
BDCA4+_DentriticCells69.4
Bonemarrow19.05
BronchialEpithelialCells20.45
CD105+_Endothelial25.85
CD14+_Monocytes29.75
CD19+_BCells(neg._sel.)34.65
CD33+_Myeloid26.3
CD34+36.55
CD4+_Tcells25.5
CD56+_NKCells59.2
CD71+_EarlyErythroid21.4
CD8+_Tcells27.65
CardiacMyocytes32.1
Caudatenucleus17.45
Cerebellum17.45
CerebellumPeduncles21.75
CiliaryGanglion13.6
CingulateCortex19
Colorectaladenocarcinoma22.85
DorsalRootGanglion10.95
FetalThyroid20.05
Fetalbrain21.25
Fetalliver16.55
Fetallung15
GlobusPallidus11.95
Heart25.4
Hypothalamus27.55
Kidney15.6
Leukemia_chronicMyelogenousK-56237.5
Leukemia_promyelocytic-HL-6016.35
Leukemialymphoblastic(MOLT-4)20.55
Liver24.7
Lung23.85
Lymphnode23.45
Lymphoma_burkitts(Daudi)33.05
Lymphoma_burkitts(Raji)26.6
MedullaOblongata13.6
OccipitalLobe18.05
OlfactoryBulb14.5
Ovary10.2
Pancreas15.15
PancreaticIslet21.2
ParietalLobe20.1
Pituitary23.1
Placenta23.05
Pons17.65
PrefrontalCortex23.45
Prostate24.3
Salivarygland15
SkeletalMuscle23.05
Skin19.35
SmoothMuscle37
Spinalcord20.15
SubthalamicNucleus15
SuperiorCervicalGanglion17.1
TemporalLobe17.1
Testis30
TestisGermCell18.75
TestisIntersitial16.8
TestisLeydigCell18.75
TestisSeminiferousTubule16.3
Thalamus19.15
Thymus24.7
Thyroid22.9
Tongue18.45
Tonsil18.1
Trachea15.1
TrigeminalGanglion14.75
Uterus14.9
UterusCorpus17.65
WholeBlood22.05
Wholebrain19.8
colon18.8
pineal_day23.08
pineal_night22.3
retina22.325
small_intestine18.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10880_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
Amygdala4.3 ± 0.58
Basal Forebrain4.25 ± 0.28
Basal Part of Pons4.23 ± 0.51
Cerebellar Cortex4.19 ± 0.54
Cerebellar Nuclei4.37 ± 0.48
Claustrum3.94 ± 0.72
Epithalamus4.54 ± 0.52
Frontal Lobe4.42 ± 0.48
Globus Pallidus4.69 ± 0.38
Hypothalamus4.42 ± 0.54
Insula4.62 ± 0.21
Limbic Lobe4.1 ± 0.54
Mesencephalon4.4 ± 0.33
Myelencephalon4.3 ± 0.55
Occipital Lobe4.02 ± 0.54
Parietal Lobe4.17 ± 0.44
Pontine Tegmentum4.41 ± 0.53
Striatum4.21 ± 0.46
Subthalamus4.09 ± 0.35
Temporal Lobe4.47 ± 0.39
Thalamus4.34 ± 0.57
White Matter5.05 ± 0.2
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
SMAL1_HUMAN_2 9 2 10 SLPLTEEQR 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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