AutismKB 2.0

Annotation Detail for SPECC1L


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Basic Information Top
Gene Symbol:SPECC1L ( CYTSA,KIAA0376 )
Gene Full Name: sperm antigen with calponin homology and coiled-coil domains 1-like
Band: 22q11.23
Quick LinksEntrez ID:23384; OMIM: NA; Uniprot ID:CYTSA_HUMAN; ENSEMBL ID: ENSG00000100014; HGNC ID: 29022
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 body5 / 7076170
blastocyst6 / 6231996
fetus33 / 56401258
neonate0 / 310970 
infant5 / 23620211
juvenile0 / 555560 
adult106 / 193912154
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) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma7 / 8282384
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor16 / 26384560
glioma9 / 10688384
head and neck tumor4 / 13630229
kidney tumor4 / 6895958
leukemia5 / 9584252
liver tumor0 / 963590 
lung tumor5 / 10312748
lymphoma2 / 7175527
non-neoplasia4 / 9725041
normal185 / 336030755
ovarian tumor4 / 7668252
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer17 / 102680165
retinoblastoma3 / 4635664
skin tumor4 / 12494932
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites3 / 4001574
bladder0 / 297570 
blood4 / 12347832
bone3 / 7165541
bone marrow0 / 488010 
brain61 / 110098955
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus0 / 202090 
eye13 / 21105461
heart2 / 8962622
intestine7 / 23447229
kidney12 / 21177756
larynx1 / 2414541
liver0 / 2077430 
lung19 / 33697456
lymph2 / 4427045
lymph node12 / 91610130
mammary gland8 / 15327152
mouth1 / 6705214
muscle6 / 10771555
nerve1 / 1576863
ovary5 / 10205148
pancreas11 / 21481251
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta14 / 28082549
prostate23 / 189345121
salivary gland0 / 201550 
skin5 / 21057423
spleen3 / 5395255
stomach2 / 9661920
testis21 / 33044263
thymus4 / 8113149
thyroid2 / 4747342
tonsil2 / 16999117
trachea4 / 5241376
umbilical cord0 / 136800 
uterus10 / 23287842
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212480_at
Cell line Expression level Expression bar
721_B_lymphoblasts24.35
Adipocyte8.05
AdrenalCortex6.65
Adrenalgland5.3
Amygdala6.7
Appendix6.45
AtrioventricularNode4.95
BDCA4+_DentriticCells10.65
Bonemarrow6.3
BronchialEpithelialCells6.35
CD105+_Endothelial19.2
CD14+_Monocytes8.35
CD19+_BCells(neg._sel.)15
CD33+_Myeloid13.3
CD34+25.15
CD4+_Tcells13.85
CD56+_NKCells30.15
CD71+_EarlyErythroid7.05
CD8+_Tcells17
CardiacMyocytes11.8
Caudatenucleus5.4
Cerebellum5.15
CerebellumPeduncles7.25
CiliaryGanglion4.4
CingulateCortex6.45
Colorectaladenocarcinoma9.15
DorsalRootGanglion5.15
FetalThyroid21.65
Fetalbrain9.7
Fetalliver5.45
Fetallung8.95
GlobusPallidus4.65
Heart8.1
Hypothalamus7.75
Kidney5.05
Leukemia_chronicMyelogenousK-5625.6
Leukemia_promyelocytic-HL-606
Leukemialymphoblastic(MOLT-4)8.65
Liver8.35
Lung13.3
Lymphnode5.4
Lymphoma_burkitts(Daudi)9.85
Lymphoma_burkitts(Raji)11.8
MedullaOblongata5.8
OccipitalLobe5.7
OlfactoryBulb5.1
Ovary4.2
Pancreas5.15
PancreaticIslet9.7
ParietalLobe6.6
Pituitary8.55
Placenta7
Pons6
PrefrontalCortex8
Prostate19.35
Salivarygland5.3
SkeletalMuscle6.95
Skin4.85
SmoothMuscle14.75
Spinalcord9.2
SubthalamicNucleus5.75
SuperiorCervicalGanglion7.2
TemporalLobe5.9
Testis9
TestisGermCell25.75
TestisIntersitial35.25
TestisLeydigCell10.6
TestisSeminiferousTubule20.9
Thalamus6.55
Thymus5.15
Thyroid19.15
Tongue6.25
Tonsil6.25
Trachea5.4
TrigeminalGanglion6.25
Uterus10.85
UterusCorpus5.7
WholeBlood7.05
Wholebrain5.45
colon6.4
pineal_day8.74
pineal_night7.92
retina7.825
small_intestine6.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P380627
  • 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
Amygdala6.72 ± 0.34
Basal Forebrain7.09 ± 0.25
Basal Part of Pons7.1 ± 0.17
Cerebellar Cortex7.42 ± 0.23
Cerebellar Nuclei7.07 ± 0.27
Claustrum6.53 ± 0.61
Epithalamus7.37 ± 0.28
Frontal Lobe7.09 ± 0.35
Globus Pallidus7.13 ± 0.23
Hypothalamus7.27 ± 0.31
Insula7.18 ± 0.19
Limbic Lobe6.83 ± 0.32
Mesencephalon7.04 ± 0.38
Myelencephalon7.09 ± 0.39
Occipital Lobe6.98 ± 0.32
Parietal Lobe7.07 ± 0.37
Pontine Tegmentum7.02 ± 0.39
Striatum6.56 ± 0.28
Subthalamus7.19 ± 0.17
Temporal Lobe7.07 ± 0.29
Thalamus7.16 ± 0.32
White Matter6.84 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
4932439K10RikCBCerebellum14.99
18.96
4932439K10RikCTXCerebral cortex37.19
29.07
4932439K10RikHIPHippocampal region18.45
20.98
4932439K10RikHPFHippocampal formation19.35
19.02
4932439K10RikHYHypothalamus8.99
6.94
4932439K10RikLSXLateral septal complex3.51
2.57
4932439K10RikMBMidbrain14.3
15.2
4932439K10RikMYMedulla9.58
11.45
4932439K10RikOLFOlfactory bulb27.2
25.44
4932439K10RikPPons9.25
11.11
4932439K10RikPALPallidum6.9
6.15
4932439K10RikRHPRetrohippocampal region21.48
16.8
4932439K10RiksAMYStriatum-like amygdalar nuclei12.74
9.35
4932439K10RikSTRStriatum10.62
8.13
4932439K10RikSTRdStriatum dorsal region8.92
7.05
4932439K10RikSTRvStriatum ventral region18.28
12.83
4932439K10RikTHThalamus7.54
6.38
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00007272 17 468 484 SLLDEHHISYVIDEDVK Peptide Atlas

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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