AutismKB 2.0

Annotation Detail for SRSF6


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Basic Information Top
Gene Symbol:SRSF6 ( B52,FLJ08061,MGC5045,SFRS6,SRP55 )
Gene Full Name: serine/arginine-rich splicing factor 6
Band: 20q13.11
Quick LinksEntrez ID:6431; OMIM: 601944; Uniprot ID:SRSF6_HUMAN; ENSEMBL ID: ENSG00000124193; HGNC ID: 10788
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 body7 / 7076198
blastocyst6 / 6231996
fetus86 / 564012152
neonate1 / 3109732
infant3 / 23620127
juvenile10 / 55556179
adult221 / 1939121113
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) tumor20 / 94178212
cervical tumor3 / 3436687
chondrosarcoma7 / 8282384
colorectal tumor17 / 114246148
esophageal tumor6 / 17290347
gastrointestinal tumor13 / 119369108
germ cell tumor17 / 26384564
glioma4 / 10688337
head and neck tumor24 / 136302176
kidney tumor5 / 6895972
leukemia8 / 9584283
liver tumor8 / 9635983
lung tumor2 / 10312719
lymphoma3 / 7175541
non-neoplasia5 / 9725051
normal324 / 336030796
ovarian tumor8 / 76682104
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer19 / 102680185
retinoblastoma1 / 4635621
skin tumor6 / 12494948
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites5 / 40015124
bladder2 / 2975767
blood35 / 123478283
bone8 / 71655111
bone marrow9 / 48801184
brain94 / 110098985
cervix3 / 4817162
connective tissue9 / 14925560
ear8 / 16212493
embryonic tissue29 / 215722134
esophagus6 / 20209296
eye14 / 21105466
heart22 / 89626245
intestine25 / 234472106
kidney9 / 21177742
larynx2 / 2414582
liver18 / 20774386
lung17 / 33697450
lymph0 / 442700 
lymph node8 / 9161087
mammary gland23 / 153271150
mouth7 / 67052104
muscle9 / 10771583
nerve2 / 15768126
ovary6 / 10205158
pancreas9 / 21481241
parathyroid3 / 20539146
pharynx2 / 4132848
pituitary gland5 / 16585301
placenta23 / 28082581
prostate28 / 189345147
salivary gland1 / 2015549
skin19 / 21057490
spleen5 / 5395292
stomach10 / 96619103
testis20 / 33044260
thymus15 / 81131184
thyroid12 / 47473252
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus28 / 232878120
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208804_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts249
Adipocyte178.05
AdrenalCortex258.5
Adrenalgland139.05
Amygdala50.45
Appendix68.4
AtrioventricularNode37.1
BDCA4+_DentriticCells1003.35
Bonemarrow86.5
BronchialEpithelialCells152.3
CD105+_Endothelial795.05
CD14+_Monocytes527.5
CD19+_BCells(neg._sel.)866.55
CD33+_Myeloid1234.05
CD34+1050.7
CD4+_Tcells897.75
CD56+_NKCells754.9
CD71+_EarlyErythroid477.8
CD8+_Tcells741.85
CardiacMyocytes93.05
Caudatenucleus126
Cerebellum73.95
CerebellumPeduncles111.3
CiliaryGanglion81.95
CingulateCortex54.55
Colorectaladenocarcinoma105.65
DorsalRootGanglion73.45
FetalThyroid365.1
Fetalbrain246
Fetalliver187.65
Fetallung259.35
GlobusPallidus45.2
Heart11
Hypothalamus341.4
Kidney72.85
Leukemia_chronicMyelogenousK-56257.55
Leukemia_promyelocytic-HL-60214.25
Leukemialymphoblastic(MOLT-4)535.05
Liver10.4
Lung13.1
Lymphnode302
Lymphoma_burkitts(Daudi)304.7
Lymphoma_burkitts(Raji)63.2
MedullaOblongata108.3
OccipitalLobe115.1
OlfactoryBulb115.45
Ovary115.45
Pancreas131.5
PancreaticIslet294.9
ParietalLobe109.95
Pituitary729.7
Placenta149.75
Pons69.9
PrefrontalCortex192.55
Prostate124.8
Salivarygland196.35
SkeletalMuscle10.7
Skin60.8
SmoothMuscle170.35
Spinalcord163
SubthalamicNucleus62
SuperiorCervicalGanglion17.95
TemporalLobe50.2
Testis87.55
TestisGermCell176.05
TestisIntersitial108.55
TestisLeydigCell121.85
TestisSeminiferousTubule95
Thalamus107.8
Thymus131.45
Thyroid202.3
Tongue64
Tonsil294
Trachea100.6
TrigeminalGanglion39.2
Uterus119.65
UterusCorpus200.9
WholeBlood198.25
Wholebrain52.5
colon93.1
pineal_day303.06
pineal_night267.46
retina322.575
small_intestine137
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P109017
  • 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
Amygdala5.99 ± 0.4
Basal Forebrain6.21 ± 0.16
Basal Part of Pons5.9 ± 0.37
Cerebellar Cortex6.28 ± 0.25
Cerebellar Nuclei6.1 ± 0.33
Claustrum6 ± 0.48
Epithalamus6.01 ± 0.46
Frontal Lobe5.93 ± 0.35
Globus Pallidus6.46 ± 0.36
Hypothalamus5.87 ± 0.38
Insula6.03 ± 0.23
Limbic Lobe5.93 ± 0.42
Mesencephalon6 ± 0.47
Myelencephalon6.02 ± 0.43
Occipital Lobe6.15 ± 0.37
Parietal Lobe5.89 ± 0.35
Pontine Tegmentum6.01 ± 0.39
Striatum6.17 ± 0.58
Subthalamus6.12 ± 0.14
Temporal Lobe5.98 ± 0.3
Thalamus5.93 ± 0.41
White Matter7.21 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sfrs6CBCerebellum23.34
43.9
Sfrs6CTXCerebral cortex100
100
Sfrs6HIPHippocampal region99.02
100
Sfrs6HPFHippocampal formation94.59
100
Sfrs6HYHypothalamus18.56
16.18
Sfrs6LSXLateral septal complex61.36
47.44
Sfrs6MBMidbrain22.15
23.73
Sfrs6MYMedulla18.25
22.8
Sfrs6OLFOlfactory bulb82.22
83.95
Sfrs6PPons15.28
18.64
Sfrs6PALPallidum27.95
25.82
Sfrs6RHPRetrohippocampal region87.08
83.93
Sfrs6sAMYStriatum-like amygdalar nuclei86.97
77.78
Sfrs6STRStriatum69.91
56.19
Sfrs6STRdStriatum dorsal region68.95
55.03
Sfrs6STRvStriatum ventral region67.43
51.16
Sfrs6THThalamus33.99
32.15
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
A8K588_HUMAN_132 14 132 145 QAGEVTYADAHKER PRIDE
PAp00001392 11 121 131 CSWQDLKDFMR 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