AutismKB 2.0

Annotation Detail for SSPN


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Basic Information Top
Gene Symbol:SSPN ( DAGA5,KRAG,NSPN,SPN1,SPN2,nanospan )
Gene Full Name: sarcospan (Kras oncogene-associated gene)
Band: 12p11.2
Quick LinksEntrez ID:8082; OMIM: 601599; Uniprot ID:SSPN_HUMAN; ENSEMBL ID: ENSG00000123096; HGNC ID: 11322
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 body1 / 7076114
blastocyst0 / 623190 
fetus13 / 56401223
neonate3 / 3109796
infant1 / 2362042
juvenile0 / 555560 
adult47 / 193912124
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma8 / 10688374
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal117 / 336030734
ovarian tumor0 / 766820 
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain42 / 110098938
cervix0 / 481710 
connective tissue4 / 14925526
ear4 / 16212246
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye6 / 21105428
heart4 / 8962644
intestine6 / 23447225
kidney3 / 21177714
larynx1 / 2414541
liver2 / 2077439
lung8 / 33697423
lymph0 / 442700 
lymph node13 / 91610141
mammary gland5 / 15327132
mouth1 / 6705214
muscle4 / 10771537
nerve0 / 157680 
ovary2 / 10205119
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate7 / 18934536
salivary gland0 / 201550 
skin6 / 21057428
spleen3 / 5395255
stomach2 / 9661920
testis3 / 3304429
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord3 / 13680219
uterus9 / 23287838
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204964_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.75
Adipocyte3.85
AdrenalCortex4.1
Adrenalgland3.2
Amygdala9.4
Appendix3.9
AtrioventricularNode2.95
BDCA4+_DentriticCells4.35
Bonemarrow3.75
BronchialEpithelialCells3.75
CD105+_Endothelial3.95
CD14+_Monocytes4.1
CD19+_BCells(neg._sel.)8.65
CD33+_Myeloid4.9
CD34+4.95
CD4+_Tcells4.15
CD56+_NKCells4.6
CD71+_EarlyErythroid3.55
CD8+_Tcells3.6
CardiacMyocytes5
Caudatenucleus3.4
Cerebellum3.15
CerebellumPeduncles4.35
CiliaryGanglion2.65
CingulateCortex3.95
Colorectaladenocarcinoma3.8
DorsalRootGanglion2.95
FetalThyroid4.45
Fetalbrain3.75
Fetalliver3.3
Fetallung3.1
GlobusPallidus2.85
Heart4.9
Hypothalamus4.55
Kidney3.05
Leukemia_chronicMyelogenousK-5623.45
Leukemia_promyelocytic-HL-603.4
Leukemialymphoblastic(MOLT-4)3.05
Liver5
Lung6.25
Lymphnode3.3
Lymphoma_burkitts(Daudi)4.8
Lymphoma_burkitts(Raji)5.3
MedullaOblongata3.55
OccipitalLobe3.45
OlfactoryBulb16.15
Ovary2.55
Pancreas3.1
PancreaticIslet4.1
ParietalLobe4.1
Pituitary4.45
Placenta3.95
Pons3.65
PrefrontalCortex4.95
Prostate59.7
Salivarygland3.1
SkeletalMuscle6
Skin2.95
SmoothMuscle4.35
Spinalcord4.15
SubthalamicNucleus3.45
SuperiorCervicalGanglion4.3
TemporalLobe3.5
Testis3.4
TestisGermCell5.45
TestisIntersitial3.2
TestisLeydigCell3.8
TestisSeminiferousTubule3.35
Thalamus3.85
Thymus3.9
Thyroid16.05
Tongue4.3
Tonsil3.7
Trachea3.9
TrigeminalGanglion4.05
Uterus70.45
UterusCorpus3.45
WholeBlood4.1
Wholebrain4.35
colon4.2
pineal_day12.5
pineal_night6.32
retina39.4
small_intestine3.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P203920
  • 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
Amygdala8.12 ± 0.41
Basal Forebrain8.48 ± 0.24
Basal Part of Pons7.25 ± 0.42
Cerebellar Cortex8.08 ± 0.2
Cerebellar Nuclei7.89 ± 0.61
Claustrum7.68 ± 0.41
Epithalamus9.58 ± 0.5
Frontal Lobe7.98 ± 0.49
Globus Pallidus9.82 ± 0.58
Hypothalamus8.65 ± 0.45
Insula7.94 ± 0.22
Limbic Lobe7.83 ± 0.57
Mesencephalon8.47 ± 0.46
Myelencephalon8.24 ± 0.6
Occipital Lobe8.24 ± 0.51
Parietal Lobe8.16 ± 0.49
Pontine Tegmentum8.24 ± 0.31
Striatum8.85 ± 0.55
Subthalamus7.76 ± 0.03
Temporal Lobe7.9 ± 0.34
Thalamus8.32 ± 0.32
White Matter8.56 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
SspnCBCerebellum0.07
0.27
SspnCTXCerebral cortex0.23
0.41
SspnHIPHippocampal region0.13
0.32
SspnHPFHippocampal formation0.13
0.25
SspnHYHypothalamus0.06
0.15
SspnLSXLateral septal complex0.04
0
SspnMBMidbrain0.11
0.33
SspnMYMedulla0.03
0.13
SspnOLFOlfactory bulb0.28
1.47
SspnPPons0.04
0.15
SspnPALPallidum0.12
0.12
SspnRHPRetrohippocampal region0.13
0.12
SspnsAMYStriatum-like amygdalar nuclei0.02
0
SspnSTRStriatum0.05
0.1
SspnSTRdStriatum dorsal region0.05
0.04
SspnSTRvStriatum ventral region0.09
0.15
SspnTHThalamus0.12
0.16
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
SSPN_HUMAN_166 9 166 174 LPSSEPLSR PRIDE
SSPN_HUMAN_230 13 230 242 ICSLTASEGPQQK 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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