AutismKB 2.0

Annotation Detail for SMAP2


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Basic Information Top
Gene Symbol:SMAP2 ( RP1-228H13.3,SMAP1L )
Gene Full Name: small ArfGAP2
Band: 1p34.2
Quick LinksEntrez ID:64744; OMIM: NA; Uniprot ID:SMAP2_HUMAN; ENSEMBL ID: ENSG00000084070; HGNC ID: 25082
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 
fetus19 / 56401233
neonate3 / 3109796
infant0 / 236200 
juvenile2 / 5555635
adult96 / 193912149
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) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor2 / 2638457
glioma4 / 10688337
head and neck tumor6 / 13630244
kidney tumor1 / 6895914
leukemia10 / 95842104
liver tumor4 / 9635941
lung tumor10 / 10312796
lymphoma4 / 7175555
non-neoplasia4 / 9725041
normal152 / 336030745
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer7 / 10268068
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder2 / 2975767
blood33 / 123478267
bone2 / 7165527
bone marrow0 / 488010 
brain53 / 110098948
cervix1 / 4817120
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye5 / 21105423
heart1 / 8962611
intestine10 / 23447242
kidney4 / 21177718
larynx2 / 2414582
liver5 / 20774324
lung22 / 33697465
lymph0 / 442700 
lymph node3 / 9161032
mammary gland8 / 15327152
mouth1 / 6705214
muscle4 / 10771537
nerve2 / 15768126
ovary2 / 10205119
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta6 / 28082521
prostate8 / 18934542
salivary gland0 / 201550 
skin1 / 2105744
spleen6 / 53952111
stomach1 / 9661910
testis11 / 33044233
thymus12 / 81131147
thyroid3 / 4747363
tonsil6 / 16999352
trachea4 / 5241376
umbilical cord2 / 13680146
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P225325
  • 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
Amygdala5.62 ± 0.28
Basal Forebrain5.34 ± 0.3
Basal Part of Pons5.77 ± 0.53
Cerebellar Cortex5.37 ± 0.34
Cerebellar Nuclei5.81 ± 0.29
Claustrum5.93 ± 0.45
Epithalamus4.89 ± 0.42
Frontal Lobe5.84 ± 0.47
Globus Pallidus4.61 ± 0.54
Hypothalamus5.92 ± 0.22
Insula5.96 ± 0.37
Limbic Lobe5.81 ± 0.52
Mesencephalon5.57 ± 0.61
Myelencephalon5.54 ± 0.6
Occipital Lobe5.15 ± 0.58
Parietal Lobe5.77 ± 0.43
Pontine Tegmentum5.62 ± 0.45
Striatum5.02 ± 0.75
Subthalamus5.93 ± 0.25
Temporal Lobe5.9 ± 0.35
Thalamus5.15 ± 0.46
White Matter4.63 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smap1lCBCerebellum84.07
100
Smap1lCTXCerebral cortex100
100
Smap1lHIPHippocampal region100
100
Smap1lHPFHippocampal formation100
100
Smap1lHYHypothalamus100
100
Smap1lLSXLateral septal complex100
100
Smap1lMBMidbrain100
100
Smap1lMYMedulla97.42
100
Smap1lOLFOlfactory bulb100
100
Smap1lPPons100
100
Smap1lPALPallidum100
100
Smap1lRHPRetrohippocampal region100
100
Smap1lsAMYStriatum-like amygdalar nuclei100
100
Smap1lSTRStriatum100
100
Smap1lSTRdStriatum dorsal region100
100
Smap1lSTRvStriatum ventral region100
100
Smap1lTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011564 23 180 202 STAPVMDLLGLDAPVACSIANSK Peptide Atlas
SMAP2_HUMAN_2 10 2 11 TGKSVKDVDR 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