AutismKB 2.0

Annotation Detail for SRCAP


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Basic Information Top
Gene Symbol:SRCAP ( DOMO1,EAF1,FLJ44499,KIAA0309,SWR1 )
Gene Full Name: Snf2-related CREBBP activator protein
Band: 16p11.2
Quick LinksEntrez ID:10847; OMIM: 611421; Uniprot ID:SRCAP_HUMAN; ENSEMBL ID: ENSG00000080603; HGNC ID: 16974
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 body8 / 70761113
blastocyst4 / 6231964
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult207 / 1939121106
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor18 / 94178191
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor28 / 114246245
esophageal tumor3 / 17290173
gastrointestinal tumor6 / 11936950
germ cell tumor9 / 26384534
glioma11 / 106883102
head and neck tumor18 / 136302132
kidney tumor1 / 6895914
leukemia11 / 95842114
liver tumor2 / 9635920
lung tumor26 / 103127252
lymphoma3 / 7175541
non-neoplasia1 / 9725010
normal175 / 336030752
ovarian tumor8 / 76682104
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer3 / 10268029
retinoblastoma8 / 46356172
skin tumor9 / 12494972
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites5 / 40015124
bladder2 / 2975767
blood9 / 12347872
bone8 / 71655111
bone marrow0 / 488010 
brain57 / 110098951
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus3 / 20209148
eye25 / 211054118
heart0 / 896260 
intestine42 / 234472179
kidney6 / 21177728
larynx9 / 24145372
liver2 / 2077439
lung32 / 33697494
lymph3 / 4427067
lymph node11 / 91610120
mammary gland19 / 153271123
mouth4 / 6705259
muscle6 / 10771555
nerve0 / 157680 
ovary9 / 10205188
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta25 / 28082589
prostate8 / 18934542
salivary gland4 / 20155198
skin12 / 21057456
spleen5 / 5395292
stomach1 / 9661910
testis13 / 33044239
thymus9 / 81131110
thyroid3 / 4747363
tonsil2 / 16999117
trachea1 / 5241319
umbilical cord2 / 13680146
uterus23 / 23287898
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212275_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts53.65
Adipocyte60.25
AdrenalCortex63
Adrenalgland50.1
Amygdala30.4
Appendix60
AtrioventricularNode73.7
BDCA4+_DentriticCells55.5
Bonemarrow57.5
BronchialEpithelialCells35.6
CD105+_Endothelial40.75
CD14+_Monocytes62.3
CD19+_BCells(neg._sel.)48.05
CD33+_Myeloid64
CD34+70.8
CD4+_Tcells60.65
CD56+_NKCells53.1
CD71+_EarlyErythroid51
CD8+_Tcells49.25
CardiacMyocytes60.25
Caudatenucleus64.95
Cerebellum52.45
CerebellumPeduncles72
CiliaryGanglion70.5
CingulateCortex82.15
Colorectaladenocarcinoma43.3
DorsalRootGanglion58.05
FetalThyroid61.2
Fetalbrain60.25
Fetalliver47.55
Fetallung44.25
GlobusPallidus57.65
Heart76.65
Hypothalamus56.05
Kidney64.1
Leukemia_chronicMyelogenousK-56255.2
Leukemia_promyelocytic-HL-6044.4
Leukemialymphoblastic(MOLT-4)55.85
Liver66.75
Lung61.3
Lymphnode51.55
Lymphoma_burkitts(Daudi)70.65
Lymphoma_burkitts(Raji)70.15
MedullaOblongata50.3
OccipitalLobe46.65
OlfactoryBulb50.85
Ovary40.4
Pancreas43.8
PancreaticIslet53.35
ParietalLobe72.7
Pituitary76.6
Placenta57.3
Pons60.95
PrefrontalCortex62.5
Prostate64.2
Salivarygland45.2
SkeletalMuscle86.9
Skin63.1
SmoothMuscle54.4
Spinalcord66
SubthalamicNucleus100.3
SuperiorCervicalGanglion67.7
TemporalLobe56.6
Testis49.5
TestisGermCell42.75
TestisIntersitial47.65
TestisLeydigCell95.8
TestisSeminiferousTubule77.75
Thalamus62.35
Thymus44.65
Thyroid42.75
Tongue55.9
Tonsil60.55
Trachea48.95
TrigeminalGanglion60.1
Uterus39.3
UterusCorpus46.4
WholeBlood56.05
Wholebrain32.9
colon10.4
pineal_day70
pineal_night65.72
retina54.3
small_intestine7.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6646_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
Amygdala4.44 ± 0.75
Basal Forebrain4.39 ± 0.64
Basal Part of Pons3.87 ± 0.57
Cerebellar Cortex4.57 ± 0.49
Cerebellar Nuclei4.43 ± 0.55
Claustrum4.85 ± 0.81
Epithalamus4.15 ± 0.52
Frontal Lobe3.96 ± 0.78
Globus Pallidus4.57 ± 0.45
Hypothalamus3.97 ± 0.75
Insula3.74 ± 0.47
Limbic Lobe4.18 ± 0.76
Mesencephalon4.28 ± 0.75
Myelencephalon4.2 ± 0.74
Occipital Lobe4.53 ± 0.69
Parietal Lobe4.17 ± 0.72
Pontine Tegmentum4.23 ± 0.73
Striatum4.31 ± 0.9
Subthalamus3.92 ± 0.55
Temporal Lobe4.14 ± 0.64
Thalamus4.03 ± 0.65
White Matter5.65 ± 0.43
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00071380 16 582 597 KEITDIAAAAESLQPK Peptide Atlas
SRCAP_HUMAN_1318 34 1318 1351 DGLTPVPPLAPAPRPPSSGLPAVLNPRPTLTPGR 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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