AutismKB 2.0

Annotation Detail for SKAP2


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Basic Information Top
Gene Symbol:SKAP2 ( MGC10411,MGC33304,PRAP,RA70,SAPS,SCAP2,SKAP-HOM,SKAP55R )
Gene Full Name: src kinase associated phosphoprotein 2
Band: 7p15.2
Quick LinksEntrez ID:8935; OMIM: 605215; Uniprot ID:SKAP2_HUMAN; ENSEMBL ID: ENSG00000005020; HGNC ID: 15687
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 body4 / 7076156
blastocyst0 / 623190 
fetus24 / 56401242
neonate6 / 31097192
infant0 / 236200 
juvenile3 / 5555653
adult158 / 193912181
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile7 / 55556125
adult59 / 193912130
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma8 / 17475457
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor92 / 263845348
glioma4 / 10688337
head and neck tumor5 / 13630236
kidney tumor4 / 6895958
leukemia2 / 9584220
liver tumor6 / 9635962
lung tumor13 / 103127126
lymphoma2 / 7175527
non-neoplasia6 / 9725061
normal176 / 336030752
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor7 / 12494956
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor2 / 9025722
adrenal tumor0 / 127940 
bladder carcinoma5 / 17475286
breast (mammary gland) tumor3 / 9417831
cervical tumor12 / 34366349
chondrosarcoma0 / 828230 
colorectal tumor11 / 11424696
esophageal tumor5 / 17290289
gastrointestinal tumor2 / 11936916
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor4 / 9635941
lung tumor82 / 103127795
lymphoma244 / 717553400
non-neoplasia613 / 972506303
normal393 / 3360307116
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites1 / 4001524
bladder9 / 29757302
blood17 / 123478137
bone4 / 7165555
bone marrow4 / 4880181
brain44 / 110098939
cervix0 / 481710 
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye4 / 21105418
heart4 / 8962644
intestine15 / 23447263
kidney20 / 21177794
larynx2 / 2414582
liver13 / 20774362
lung25 / 33697474
lymph0 / 442700 
lymph node22 / 91610240
mammary gland9 / 15327158
mouth3 / 6705244
muscle3 / 10771527
nerve0 / 157680 
ovary1 / 1020519
pancreas2 / 2148129
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta9 / 28082532
prostate1 / 1893455
salivary gland0 / 201550 
skin12 / 21057456
spleen6 / 53952111
stomach7 / 9661972
testis79 / 330442239
thymus2 / 8113124
thyroid1 / 4747321
tonsil4 / 16999235
trachea2 / 5241338
umbilical cord0 / 136800 
uterus4 / 23287817
vascular5 / 5178096
adipose tissue16 / 131061220
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood4 / 12347832
bone0 / 716550 
bone marrow2 / 4880140
brain17 / 110098915
cervix14 / 48171290
connective tissue613 / 1492554107
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus5 / 20209247
eye0 / 2110540 
heart2 / 8962622
intestine123 / 234472524
kidney4 / 21177718
larynx0 / 241450 
liver5 / 20774324
lung93 / 336974275
lymph237 / 442705353
lymph node19 / 91610207
mammary gland6 / 15327139
mouth1 / 6705214
muscle11 / 107715102
nerve0 / 157680 
ovary8 / 10205178
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx18 / 41328435
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland1 / 2015549
skin0 / 2105740 
spleen78 / 539521445
stomach71 / 96619734
testis3 / 3304429
thymus50 / 81131616
thyroid2 / 4747342
tonsil23 / 169991353
trachea4 / 5241376
umbilical cord0 / 136800 
uterus13 / 23287855
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204361_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts24.25
Adipocyte20.95
AdrenalCortex33.15
Adrenalgland16.05
Amygdala12.15
Appendix23.6
AtrioventricularNode35.65
BDCA4+_DentriticCells128.3
Bonemarrow19.05
BronchialEpithelialCells14.9
CD105+_Endothelial16.35
CD14+_Monocytes135.4
CD19+_BCells(neg._sel.)54.3
CD33+_Myeloid151.1
CD34+20.25
CD4+_Tcells15.95
CD56+_NKCells30.6
CD71+_EarlyErythroid16.5
CD8+_Tcells12.9
CardiacMyocytes28.2
Caudatenucleus15.25
Cerebellum13.35
CerebellumPeduncles22.95
CiliaryGanglion32.4
CingulateCortex19.5
Colorectaladenocarcinoma14
DorsalRootGanglion22.7
FetalThyroid17.25
Fetalbrain14.8
Fetalliver14.25
Fetallung12.45
GlobusPallidus14.75
Heart29.95
Hypothalamus17.5
Kidney17.7
Leukemia_chronicMyelogenousK-56215.85
Leukemia_promyelocytic-HL-6013.65
Leukemialymphoblastic(MOLT-4)12.35
Liver24.2
Lung16.55
Lymphnode13.5
Lymphoma_burkitts(Daudi)23.4
Lymphoma_burkitts(Raji)25.4
MedullaOblongata15.25
OccipitalLobe15.75
OlfactoryBulb13.15
Ovary18.8
Pancreas14.2
PancreaticIslet17.3
ParietalLobe19.25
Pituitary19.6
Placenta16.25
Pons19.05
PrefrontalCortex18.1
Prostate15.45
Salivarygland20.5
SkeletalMuscle27.6
Skin21
SmoothMuscle17.9
Spinalcord17.55
SubthalamicNucleus20.95
SuperiorCervicalGanglion43
TemporalLobe17.1
Testis14.55
TestisGermCell15.9
TestisIntersitial27.8
TestisLeydigCell30
TestisSeminiferousTubule21.5
Thalamus18.3
Thymus9.9
Thyroid14.45
Tongue18.5
Tonsil17
Trachea13.95
TrigeminalGanglion31.6
Uterus12.1
UterusCorpus17
WholeBlood244.85
Wholebrain9.4
colon18.05
pineal_day17.76
pineal_night16.84
retina17.575
small_intestine12.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P157128
  • 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
Amygdala6.2 ± 0.67
Basal Forebrain6.34 ± 0.45
Basal Part of Pons6.4 ± 0.49
Cerebellar Cortex5.95 ± 0.38
Cerebellar Nuclei6.05 ± 0.63
Claustrum7.14 ± 0.45
Epithalamus6.15 ± 0.93
Frontal Lobe6.58 ± 0.35
Globus Pallidus6.09 ± 0.88
Hypothalamus6.88 ± 0.5
Insula6.7 ± 0.21
Limbic Lobe6.22 ± 0.66
Mesencephalon5.99 ± 0.7
Myelencephalon6.41 ± 0.67
Occipital Lobe5.51 ± 0.92
Parietal Lobe6.38 ± 0.47
Pontine Tegmentum6.3 ± 0.64
Striatum4.98 ± 0.95
Subthalamus6.08 ± 0.38
Temporal Lobe6.58 ± 0.34
Thalamus6.14 ± 0.61
White Matter5.23 ± 0.73
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Skap2CBCerebellum3.74
5.25
Skap2CTXCerebral cortex18.35
13.52
Skap2HIPHippocampal region12.76
14.47
Skap2HPFHippocampal formation13.05
12.71
Skap2HYHypothalamus2.1
1.65
Skap2LSXLateral septal complex0.36
0.17
Skap2MBMidbrain2.87
3.47
Skap2MYMedulla5.38
6.41
Skap2OLFOlfactory bulb19.1
13.94
Skap2PPons5.83
7.53
Skap2PALPallidum0.83
0.65
Skap2RHPRetrohippocampal region13.69
10.69
Skap2sAMYStriatum-like amygdalar nuclei3.9
2.73
Skap2STRStriatum2.01
1.28
Skap2STRdStriatum dorsal region1.98
1.27
Skap2STRvStriatum ventral region1.74
0.98
Skap2THThalamus2.35
2.11
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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