AutismKB 2.0

Annotation Detail for SKAP1


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Basic Information Top
Gene Symbol:SKAP1 ( SCAP1,SKAP55 )
Gene Full Name: src kinase associated phosphoprotein 1
Band: 17q21.32
Quick LinksEntrez ID:8631; OMIM: 604969; Uniprot ID:SKAP1_HUMAN; ENSEMBL ID: ENSG00000141293; HGNC ID: 15605
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 
fetus13 / 56401223
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult20 / 193912110
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal37 / 336030711
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor1 / 9025711
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 
blood3 / 12347824
bone0 / 716550 
bone marrow0 / 488010 
brain3 / 11009892
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine1 / 2344724
kidney3 / 21177714
larynx0 / 241450 
liver2 / 2077439
lung2 / 3369745
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen3 / 5395255
stomach1 / 9661910
testis3 / 3304429
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205790_at
Cell line Expression level Expression bar
721_B_lymphoblasts178.8
Adipocyte4.45
AdrenalCortex5.2
Adrenalgland3.85
Amygdala4.5
Appendix6.6
AtrioventricularNode4.1
BDCA4+_DentriticCells5.05
Bonemarrow4.5
BronchialEpithelialCells4.45
CD105+_Endothelial4.55
CD14+_Monocytes4.7
CD19+_BCells(neg._sel.)56.65
CD33+_Myeloid5.6
CD34+5.8
CD4+_Tcells192.45
CD56+_NKCells149.1
CD71+_EarlyErythroid4.2
CD8+_Tcells273.15
CardiacMyocytes5.55
Caudatenucleus4.5
Cerebellum3.65
CerebellumPeduncles5.1
CiliaryGanglion3.35
CingulateCortex5.95
Colorectaladenocarcinoma5.95
DorsalRootGanglion4
FetalThyroid4.3
Fetalbrain4.45
Fetalliver3.9
Fetallung3.55
GlobusPallidus3.25
Heart5.65
Hypothalamus4.65
Kidney5.8
Leukemia_chronicMyelogenousK-5623.85
Leukemia_promyelocytic-HL-603.95
Leukemialymphoblastic(MOLT-4)3.6
Liver6.1
Lung4.95
Lymphnode8.25
Lymphoma_burkitts(Daudi)5.6
Lymphoma_burkitts(Raji)6.25
MedullaOblongata4.35
OccipitalLobe4.05
OlfactoryBulb4.55
Ovary3.3
Pancreas5.5
PancreaticIslet4.65
ParietalLobe4.8
Pituitary10.95
Placenta4.5
Pons4.35
PrefrontalCortex5.45
Prostate5.4
Salivarygland3.6
SkeletalMuscle7.4
Skin3.45
SmoothMuscle4.9
Spinalcord4.85
SubthalamicNucleus4.1
SuperiorCervicalGanglion8.6
TemporalLobe4.1
Testis5.9
TestisGermCell4.75
TestisIntersitial4.7
TestisLeydigCell5
TestisSeminiferousTubule5.65
Thalamus4.55
Thymus10.25
Thyroid5.65
Tongue5.4
Tonsil5.3
Trachea3.8
TrigeminalGanglion4.75
Uterus3.6
UterusCorpus6.05
WholeBlood33.15
Wholebrain3.75
colon4.5
pineal_day5.48
pineal_night5.4
retina6
small_intestine4.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P100730
  • 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
Amygdala3.08 ± 0.85
Basal Forebrain3.09 ± 0.57
Basal Part of Pons5.01 ± 0.4
Cerebellar Cortex2.74 ± 0.69
Cerebellar Nuclei3.75 ± 0.59
Claustrum3.11 ± 1.11
Epithalamus3.38 ± 0.69
Frontal Lobe4.32 ± 0.63
Globus Pallidus4.03 ± 0.95
Hypothalamus4.73 ± 0.75
Insula3.69 ± 0.54
Limbic Lobe4.15 ± 1.16
Mesencephalon3.53 ± 0.99
Myelencephalon3.88 ± 1.06
Occipital Lobe2.43 ± 1.28
Parietal Lobe3.8 ± 0.84
Pontine Tegmentum3.22 ± 0.91
Striatum4.58 ± 0.8
Subthalamus3.3 ± 1.07
Temporal Lobe2.92 ± 0.97
Thalamus3.32 ± 1.07
White Matter3.5 ± 0.72
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Skap1CBCerebellum0.73
1.49
Skap1CTXCerebral cortex0.7
0.65
Skap1HIPHippocampal region0.18
0.24
Skap1HPFHippocampal formation0.68
0.66
Skap1HYHypothalamus0.35
0.33
Skap1LSXLateral septal complex0.03
0
Skap1MBMidbrain0.28
0.63
Skap1MYMedulla1.05
1.22
Skap1OLFOlfactory bulb1.53
1.33
Skap1PPons0.5
0.72
Skap1PALPallidum0.17
0.38
Skap1RHPRetrohippocampal region1.73
1.35
Skap1sAMYStriatum-like amygdalar nuclei0.15
0.08
Skap1STRStriatum0.14
0.1
Skap1STRdStriatum dorsal region0.15
0.13
Skap1STRvStriatum ventral region0.17
0.09
Skap1THThalamus0.15
0.32
Peptide Top

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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