SRSF6 (serine and arginine rich splicing factor 6) - Rat Genome Database

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Gene: SRSF6 (serine and arginine rich splicing factor 6) Homo sapiens
Analyze
Symbol: SRSF6
Name: serine and arginine rich splicing factor 6
RGD ID: 1342668
HGNC Page HGNC:10788
Description: Enables pre-mRNA binding activity. Involved in several processes, including mRNA splicing, via spliceosome; negative regulation of keratinocyte differentiation; and negative regulation of mRNA splicing, via spliceosome. Acts upstream of or within positive regulation of epithelial cell proliferation involved in lung morphogenesis and regulation of alternative mRNA splicing, via spliceosome. Located in nuclear speck. Implicated in proliferative diabetic retinopathy and spermatogenic failure 3. Biomarker of Huntington's disease; clear cell renal cell carcinoma; colon adenocarcinoma; lung cancer; and skin cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: arginine/serine-rich splicing factor 6; B52; epididymis secretory protein Li 91; FLJ08061; HEL-S-91; MGC5045; pre-mRNA splicing factor SRP55; pre-mRNA-splicing factor SRP55; serine/arginine-rich splicing factor 6; SFRS6; splicing factor, arginine/serine-rich 6; splicing factor, arginine/serine-rich, 55 kDa; SR splicing factor 6; SRP55
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SRSF6P1   SRSF6P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382043,457,896 - 43,464,243 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2043,457,893 - 43,466,046 (+)EnsemblGRCh38hg38GRCh38
GRCh372042,086,536 - 42,092,883 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362041,519,932 - 41,525,655 (+)NCBINCBI36Build 36hg18NCBI36
Build 342041,519,931 - 41,525,655NCBI
Celera2038,793,993 - 38,799,734 (+)NCBICelera
Cytogenetic Map20q13.11NCBI
HuRef2038,822,762 - 38,828,474 (+)NCBIHuRef
CHM1_12041,990,350 - 41,996,091 (+)NCBICHM1_1
T2T-CHM13v2.02045,191,165 - 45,197,503 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-methylcholine  (EXP)
3',5'-cyclic UMP  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
aconitine  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP,ISO)
calyculin a  (ISO)
carbon nanotube  (ISO)
chloropicrin  (EXP)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
crocidolite asbestos  (ISO)
curcumin  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
dibenzo[a,l]pyrene  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
ethanol  (EXP,ISO)
fenthion  (ISO)
folic acid  (ISO)
FR900359  (EXP)
GSK690693  (EXP)
indometacin  (EXP)
iron dichloride  (EXP)
ivermectin  (EXP)
ketamine  (ISO)
lead diacetate  (ISO)
leflunomide  (EXP)
methylparaben  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nickel atom  (ISO)
niclosamide  (EXP)
ozone  (EXP)
paraquat  (EXP)
PCB138  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP)
progesterone  (EXP)
quercetin  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
testosterone enanthate  (EXP)
tetraphene  (ISO)
thiram  (EXP)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nuclear speck  (IBA,IDA,IEA)
nucleoplasm  (TAS)
nucleus  (IEA)

Molecular Function
pre-mRNA binding  (IDA)
protein binding  (IPI)
RNA binding  (HDA,IBA,IDA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Splicing factor polymorphisms, the control of VEGF isoforms and association with angiogenic eye disease. Carter JG, etal., Curr Eye Res. 2011 Apr;36(4):328-35. doi: 10.3109/02713683.2010.548892. Epub 2011 Feb 10.
2. Proteomic analysis of in vivo-assembled pre-mRNA splicing complexes expands the catalog of participating factors. Chen YI, etal., Nucleic Acids Res. 2007;35(12):3928-44. Epub 2007 May 30.
3. The splicing factor SRSF6 is amplified and is an oncoprotein in lung and colon cancers. Cohen-Eliav M, etal., J Pathol. 2013 Mar;229(4):630-9. doi: 10.1002/path.4129.
4. Huntington's disease is a four-repeat tauopathy with tau nuclear rods. Fernandez-Nogales M, etal., Nat Med. 2014 Aug;20(8):881-5. doi: 10.1038/nm.3617. Epub 2014 Jul 20.
5. Altered expression of heterogenous nuclear ribonucleoproteins and SR factors in human colon adenocarcinomas. Ghigna C, etal., Cancer Res. 1998 Dec 15;58(24):5818-24.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Alterations in expression pattern of splicing factors in epithelial ovarian cancer and its clinical impact. Iborra S, etal., Int J Gynecol Cancer. 2013 Jul;23(6):990-6. doi: 10.1097/IGC.0b013e31829783e3.
8. Splicing factor SRSF6 promotes hyperplasia of sensitized skin. Jensen MA, etal., Nat Struct Mol Biol. 2014 Feb;21(2):189-97. doi: 10.1038/nsmb.2756. Epub 2014 Jan 19.
9. Genetic variants in Ser-Arg protein-coding genes are associated with the risk of nonobstructive azoospermia in Chinese men. Ni B, etal., Fertil Steril. 2014 Jun;101(6):1711-7.e1-2. doi: 10.1016/j.fertnstert.2014.02.033. Epub 2014 Mar 21.
10. Disturbed expression of splicing factors in renal cancer affects alternative splicing of apoptosis regulators, oncogenes, and tumor suppressors. Piekielko-Witkowska A, etal., PLoS One. 2010 Oct 27;5(10):e13690. doi: 10.1371/journal.pone.0013690.
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. The spliceosome: design principles of a dynamic RNP machine. Wahl MC, etal., Cell. 2009 Feb 20;136(4):701-18. doi: 10.1016/j.cell.2009.02.009.
Additional References at PubMed
PMID:1577277   PMID:7556075   PMID:7651409   PMID:8208298   PMID:9436904   PMID:9472028   PMID:9649504   PMID:9671816   PMID:10092085   PMID:10340541   PMID:10757789   PMID:10809668  
PMID:10983978   PMID:11549316   PMID:11780052   PMID:12226669   PMID:12477932   PMID:12531473   PMID:12549914   PMID:12549978   PMID:12779084   PMID:14559993   PMID:14702039   PMID:15009664  
PMID:15302935   PMID:15489334   PMID:15635413   PMID:16159877   PMID:16189514   PMID:16341674   PMID:17081983   PMID:17332742   PMID:17353931   PMID:17361132   PMID:18029348   PMID:18315555  
PMID:18571879   PMID:18854154   PMID:19165527   PMID:19322201   PMID:19608861   PMID:19710015   PMID:19857271   PMID:19913121   PMID:20020773   PMID:20360068   PMID:20427542   PMID:20467437  
PMID:20516191   PMID:20628086   PMID:20685659   PMID:21044950   PMID:21081503   PMID:21145461   PMID:21182205   PMID:21345357   PMID:21832049   PMID:21873635   PMID:22365833   PMID:22446626  
PMID:22516966   PMID:22658674   PMID:22681889   PMID:22767602   PMID:22863883   PMID:22939629   PMID:22990118   PMID:23084401   PMID:23398456   PMID:23403292   PMID:23602568   PMID:23648111  
PMID:24337577   PMID:24457600   PMID:24711643   PMID:24981860   PMID:24999758   PMID:25144556   PMID:25416956   PMID:25662211   PMID:25796446   PMID:25889056   PMID:25921289   PMID:26167880  
PMID:26186194   PMID:26344197   PMID:26496610   PMID:26641092   PMID:26673895   PMID:26725010   PMID:26760575   PMID:26949251   PMID:27025967   PMID:27173435   PMID:27443606   PMID:27529534  
PMID:27545878   PMID:27591049   PMID:27609421   PMID:27684187   PMID:27926873   PMID:27976729   PMID:28302793   PMID:28515276   PMID:28561026   PMID:28813667   PMID:28902428   PMID:28927264  
PMID:28977666   PMID:29114070   PMID:29229926   PMID:29246973   PMID:29298432   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29721183   PMID:29802200   PMID:29844126   PMID:29845934  
PMID:29859926   PMID:29884807   PMID:30021884   PMID:30110629   PMID:30209976   PMID:30260058   PMID:30320910   PMID:30344098   PMID:30349055   PMID:30404004   PMID:30462309   PMID:30463901  
PMID:30804502   PMID:30833792   PMID:30884312   PMID:30940648   PMID:30948266   PMID:30997501   PMID:31048545   PMID:31091453   PMID:31201803   PMID:31239290   PMID:31515488   PMID:31586073  
PMID:31665637   PMID:31980649   PMID:32041737   PMID:32129710   PMID:32296183   PMID:32444465   PMID:32529326   PMID:32698014   PMID:32707033   PMID:32780723   PMID:32807901   PMID:32820193  
PMID:32901876   PMID:32994395   PMID:33050987   PMID:33306668   PMID:33376132   PMID:33397371   PMID:33644029   PMID:33660365   PMID:33742100   PMID:33905374   PMID:33957083   PMID:33961781  
PMID:34011540   PMID:34079125   PMID:34185411   PMID:34316702   PMID:34349018   PMID:34373451   PMID:34591612   PMID:34614409   PMID:34650049   PMID:34665708   PMID:34709727   PMID:34718347  
PMID:35013218   PMID:35253629   PMID:35256949   PMID:35271311   PMID:35338135   PMID:35509820   PMID:35530310   PMID:35559673   PMID:35563538   PMID:35819319   PMID:35831314   PMID:35850772  
PMID:35906200   PMID:35944360   PMID:35987950   PMID:36114006   PMID:36215168   PMID:36273042   PMID:36339263   PMID:36373674   PMID:36424410   PMID:36526897   PMID:36620874   PMID:36807382  
PMID:37071682   PMID:37616343   PMID:37689310   PMID:38113892   PMID:38697112  


Genomics

Comparative Map Data
SRSF6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382043,457,896 - 43,464,243 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2043,457,893 - 43,466,046 (+)EnsemblGRCh38hg38GRCh38
GRCh372042,086,536 - 42,092,883 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362041,519,932 - 41,525,655 (+)NCBINCBI36Build 36hg18NCBI36
Build 342041,519,931 - 41,525,655NCBI
Celera2038,793,993 - 38,799,734 (+)NCBICelera
Cytogenetic Map20q13.11NCBI
HuRef2038,822,762 - 38,828,474 (+)NCBIHuRef
CHM1_12041,990,350 - 41,996,091 (+)NCBICHM1_1
T2T-CHM13v2.02045,191,165 - 45,197,503 (+)NCBIT2T-CHM13v2.0
Srsf6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392162,773,428 - 162,779,041 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2162,773,448 - 162,779,041 (+)EnsemblGRCm39 Ensembl
GRCm382162,931,508 - 162,937,121 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2162,931,528 - 162,937,121 (+)EnsemblGRCm38mm10GRCm38
MGSCv372162,757,244 - 162,762,857 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362162,622,982 - 162,628,562 (+)NCBIMGSCv36mm8
Celera2168,878,554 - 168,884,169 (+)NCBICelera
Cytogenetic Map2H2NCBI
cM Map283.87NCBI
Srsf6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83172,009,072 - 172,014,395 (+)NCBIGRCr8
mRatBN7.23151,589,546 - 151,594,869 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3151,589,535 - 151,594,860 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3155,397,888 - 155,403,214 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03163,896,848 - 163,902,174 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03161,640,441 - 161,645,767 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03159,305,345 - 159,310,668 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3159,305,345 - 159,310,668 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03165,502,385 - 165,507,708 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43153,795,483 - 153,799,026 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13153,701,518 - 153,705,060 (+)NCBI
Celera3150,247,637 - 150,252,960 (+)NCBICelera
Cytogenetic Map3q42NCBI
Srsf6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544513,661,209 - 13,669,102 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544513,663,474 - 13,669,102 (-)NCBIChiLan1.0ChiLan1.0
SRSF6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22149,193,875 - 49,203,175 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12049,186,976 - 49,196,276 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02039,795,659 - 39,801,864 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12040,888,396 - 40,892,152 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2040,888,560 - 40,891,853 (+)Ensemblpanpan1.1panPan2
SRSF6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12431,217,190 - 31,222,852 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2431,217,184 - 31,218,618 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2430,860,739 - 30,866,500 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02431,924,806 - 31,930,549 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2431,924,822 - 31,930,549 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12431,188,536 - 31,194,277 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02431,299,944 - 31,305,686 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02431,840,352 - 31,846,095 (+)NCBIUU_Cfam_GSD_1.0
Srsf6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640180,213,648 - 180,219,277 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365303,086,680 - 3,092,828 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365303,086,944 - 3,092,780 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SRSF6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1746,119,409 - 46,125,126 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11746,119,612 - 46,122,540 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21751,513,133 - 51,516,063 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SRSF6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1220,340,163 - 20,345,873 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl220,342,681 - 20,346,122 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605069,083,496 - 69,089,235 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Srsf6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479010,812,013 - 10,817,833 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479010,812,013 - 10,817,414 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SRSF6
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_006275.6(SRSF6):c.695G>A (p.Gly232Asp) single nucleotide variant not specified [RCV004299618] Chr20:43460723 [GRCh38]
Chr20:42089363 [GRCh37]
Chr20:20q13.11		 uncertain significance
NM_006275.6(SRSF6):c.1025C>G (p.Ser342Cys) single nucleotide variant not specified [RCV004321360] Chr20:43461053 [GRCh38]
Chr20:42089693 [GRCh37]
Chr20:20q13.11		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_006275.6(SRSF6):c.382-7C>T single nucleotide variant not provided [RCV000960209] Chr20:43460026 [GRCh38]
Chr20:42088666 [GRCh37]
Chr20:20q13.11		 benign
GRCh37/hg19 20q13.11-13.12(chr20:42087848-42275167)x1 copy number loss not provided [RCV000848260] Chr20:42087848..42275167 [GRCh37]
Chr20:20q13.11-13.12		 uncertain significance
NM_006275.6(SRSF6):c.773A>G (p.His258Arg) single nucleotide variant not specified [RCV004291533] Chr20:43460801 [GRCh38]
Chr20:42089441 [GRCh37]
Chr20:20q13.11		 likely benign
NM_006275.6(SRSF6):c.643A>G (p.Arg215Gly) single nucleotide variant not specified [RCV004293955] Chr20:43460567 [GRCh38]
Chr20:42089207 [GRCh37]
Chr20:20q13.11		 uncertain significance
NM_006275.6(SRSF6):c.552C>T (p.Arg184=) single nucleotide variant not provided [RCV000906748] Chr20:43460203 [GRCh38]
Chr20:42088843 [GRCh37]
Chr20:20q13.11		 benign
NM_006275.6(SRSF6):c.414del (p.Thr137_Tyr138insTer) deletion not provided [RCV001092539] Chr20:43460065 [GRCh38]
Chr20:42088705 [GRCh37]
Chr20:20q13.11		 uncertain significance
Single allele deletion Focal-onset seizure [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13		 likely pathogenic
NM_006275.6(SRSF6):c.228T>G (p.Asp76Glu) single nucleotide variant not specified [RCV004122243] Chr20:43458481 [GRCh38]
Chr20:42087121 [GRCh37]
Chr20:20q13.11		 uncertain significance
NM_006275.6(SRSF6):c.511A>G (p.Ile171Val) single nucleotide variant not specified [RCV004120695] Chr20:43460162 [GRCh38]
Chr20:42088802 [GRCh37]
Chr20:20q13.11		 uncertain significance
NM_006275.6(SRSF6):c.673C>T (p.Arg225Cys) single nucleotide variant not specified [RCV004249909] Chr20:43460597 [GRCh38]
Chr20:42089237 [GRCh37]
Chr20:20q13.11		 uncertain significance
NM_006275.6(SRSF6):c.551G>A (p.Arg184His) single nucleotide variant not specified [RCV004254067] Chr20:43460202 [GRCh38]
Chr20:42088842 [GRCh37]
Chr20:20q13.11		 uncertain significance
NM_006275.6(SRSF6):c.725A>G (p.Lys242Arg) single nucleotide variant not specified [RCV004263690] Chr20:43460753 [GRCh38]
Chr20:42089393 [GRCh37]
Chr20:20q13.11		 uncertain significance
NM_006275.6(SRSF6):c.685C>T (p.Arg229Trp) single nucleotide variant not specified [RCV004312235] Chr20:43460713 [GRCh38]
Chr20:42089353 [GRCh37]
Chr20:20q13.11		 uncertain significance
NM_006275.6(SRSF6):c.668G>A (p.Arg223His) single nucleotide variant not specified [RCV004313091] Chr20:43460592 [GRCh38]
Chr20:42089232 [GRCh37]
Chr20:20q13.11		 uncertain significance
NM_006275.6(SRSF6):c.17T>C (p.Ile6Thr) single nucleotide variant not specified [RCV004363698] Chr20:43458050 [GRCh38]
Chr20:42086690 [GRCh37]
Chr20:20q13.11		 uncertain significance
NM_006275.6(SRSF6):c.1019C>T (p.Ser340Leu) single nucleotide variant not specified [RCV004460707] Chr20:43461047 [GRCh38]
Chr20:42089687 [GRCh37]
Chr20:20q13.11		 uncertain significance
NM_006275.6(SRSF6):c.1031A>G (p.Asp344Gly) single nucleotide variant not specified [RCV004460708] Chr20:43461059 [GRCh38]
Chr20:42089699 [GRCh37]
Chr20:20q13.11		 uncertain significance
NM_006275.6(SRSF6):c.229C>T (p.Arg77Cys) single nucleotide variant not specified [RCV004460709] Chr20:43458482 [GRCh38]
Chr20:42087122 [GRCh37]
Chr20:20q13.11		 uncertain significance
NM_006275.6(SRSF6):c.637C>T (p.Arg213Cys) single nucleotide variant not specified [RCV004460711] Chr20:43460561 [GRCh38]
Chr20:42089201 [GRCh37]
Chr20:20q13.11		 uncertain significance
NM_006275.6(SRSF6):c.809A>C (p.Glu270Ala) single nucleotide variant not specified [RCV004460713] Chr20:43460837 [GRCh38]
Chr20:42089477 [GRCh37]
Chr20:20q13.11		 uncertain significance
NM_006275.6(SRSF6):c.572A>G (p.Tyr191Cys) single nucleotide variant not specified [RCV004460710] Chr20:43460223 [GRCh38]
Chr20:42088863 [GRCh37]
Chr20:20q13.11		 uncertain significance
NM_006275.6(SRSF6):c.697C>G (p.Arg233Gly) single nucleotide variant not specified [RCV004460712] Chr20:43460725 [GRCh38]
Chr20:42089365 [GRCh37]
Chr20:20q13.11		 uncertain significance
NM_006275.6(SRSF6):c.866T>C (p.Ile289Thr) single nucleotide variant not specified [RCV004460714] Chr20:43460894 [GRCh38]
Chr20:42089534 [GRCh37]
Chr20:20q13.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1517
Count of miRNA genes:729
Interacting mature miRNAs:900
Transcripts:ENST00000244020, ENST00000483871
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human
407291707GWAS940683_Hschizophrenia QTL GWAS940683 (human)0.0000006schizophrenia204345899243458993Human

Markers in Region
SFRS6_8615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372042,089,394 - 42,090,275UniSTSGRCh37
GRCh371716,519,599 - 16,520,471UniSTSGRCh37
Build 361716,460,324 - 16,461,196RGDNCBI36
Celera2038,796,883 - 38,797,764UniSTS
Celera1716,422,498 - 16,423,370RGD
HuRef2038,825,629 - 38,826,504UniSTS
HuRef1716,386,454 - 16,387,326UniSTS
SGC32867  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372042,090,370 - 42,090,519UniSTSGRCh37
Build 362041,523,784 - 41,523,933RGDNCBI36
Celera2038,797,859 - 38,798,008RGD
Cytogenetic Map20q12-q13.1UniSTS
HuRef2038,826,599 - 38,826,748UniSTS
GeneMap99-GB4 RH Map20237.93UniSTS
Whitehead-RH Map20284.9UniSTS
RH18029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372042,089,587 - 42,089,813UniSTSGRCh37
Build 362041,523,001 - 41,523,227RGDNCBI36
Celera2038,797,076 - 38,797,302RGD
Cytogenetic Map20q12-q13.1UniSTS
HuRef2038,825,822 - 38,826,048UniSTS
GeneMap99-GB4 RH Map20242.76UniSTS
NCBI RH Map20376.6UniSTS
RH47503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372042,092,077 - 42,092,204UniSTSGRCh37
Build 362041,525,491 - 41,525,618RGDNCBI36
Celera2038,799,566 - 38,799,693RGD
Cytogenetic Map20q12-q13.1UniSTS
HuRef2038,828,306 - 38,828,433UniSTS
GeneMap99-GB4 RH Map20239.06UniSTS
NIB331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372042,091,998 - 42,092,152UniSTSGRCh37
Build 362041,525,412 - 41,525,566RGDNCBI36
Celera2038,799,487 - 38,799,641RGD
Cytogenetic Map20q12-q13.1UniSTS
HuRef2038,828,227 - 38,828,381UniSTS
GeneMap99-GB4 RH Map20237.83UniSTS
Whitehead-RH Map20284.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_034009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_936608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV704620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM788391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM830876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC306805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU668347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U30828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U30883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000244020   ⟹   ENSP00000244020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2043,457,896 - 43,464,243 (+)Ensembl
Ensembl Acc Id: ENST00000483871   ⟹   ENSP00000433544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2043,457,928 - 43,461,334 (+)Ensembl
Ensembl Acc Id: ENST00000662078   ⟹   ENSP00000499666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2043,457,893 - 43,466,046 (+)Ensembl
Ensembl Acc Id: ENST00000668808   ⟹   ENSP00000499517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2043,457,893 - 43,463,605 (+)Ensembl
Ensembl Acc Id: ENST00000670741   ⟹   ENSP00000499492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2043,457,893 - 43,463,605 (+)Ensembl
Ensembl Acc Id: ENST00000671022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2043,458,652 - 43,461,213 (+)Ensembl
RefSeq Acc Id: NM_006275   ⟹   NP_006266
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382043,457,896 - 43,464,243 (+)NCBI
GRCh372042,086,504 - 42,092,245 (+)ENTREZGENE
Build 362041,519,932 - 41,525,655 (+)NCBI Archive
HuRef2038,822,762 - 38,828,474 (+)ENTREZGENE
CHM1_12041,990,350 - 41,996,091 (+)NCBI
T2T-CHM13v2.02045,191,165 - 45,197,503 (+)NCBI
Sequence:
RefSeq Acc Id: NR_034009
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382043,457,896 - 43,464,243 (+)NCBI
GRCh372042,086,504 - 42,092,245 (+)ENTREZGENE
HuRef2038,822,762 - 38,828,474 (+)ENTREZGENE
CHM1_12041,990,350 - 41,996,091 (+)NCBI
T2T-CHM13v2.02045,191,165 - 45,197,503 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047440372   ⟹   XP_047296328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382043,457,896 - 43,459,537 (+)NCBI
RefSeq Acc Id: XM_054323841   ⟹   XP_054179816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02045,191,165 - 45,193,003 (+)NCBI
RefSeq Acc Id: NP_006266   ⟸   NM_006275
- UniProtKB: Q9UJB8 (UniProtKB/Swiss-Prot),   Q96J06 (UniProtKB/Swiss-Prot),   Q13245 (UniProtKB/Swiss-Prot),   Q13244 (UniProtKB/Swiss-Prot),   E1P5W6 (UniProtKB/Swiss-Prot),   B7Z6J3 (UniProtKB/Swiss-Prot),   Q9Y3N7 (UniProtKB/Swiss-Prot),   Q13247 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000499666   ⟸   ENST00000662078
Ensembl Acc Id: ENSP00000244020   ⟸   ENST00000244020
Ensembl Acc Id: ENSP00000499517   ⟸   ENST00000668808
Ensembl Acc Id: ENSP00000433544   ⟸   ENST00000483871
Ensembl Acc Id: ENSP00000499492   ⟸   ENST00000670741
RefSeq Acc Id: XP_047296328   ⟸   XM_047440372
- Peptide Label: isoform X1
- UniProtKB: B5BU15 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179816   ⟸   XM_054323841
- Peptide Label: isoform X1
- UniProtKB: B5BU15 (UniProtKB/TrEMBL)
Protein Domains
RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13247-F1-model_v2 AlphaFold Q13247 1-344 view protein structure

Promoters
RGD ID:6799060
Promoter ID:HG_KWN:39483
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000328748,   OTTHUMT00000079292,   UC002XKI.1,   UC002XKJ.1,   UC002XKK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362041,519,471 - 41,520,417 (+)MPROMDB
RGD ID:6850802
Promoter ID:EP73195
Type:single initiation site
Name:HS_SFRS6
Description:Splicing factor, arginine/serine-rich 6.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362041,519,950 - 41,520,010EPD
RGD ID:13206957
Promoter ID:EPDNEW_H27059
Type:initiation region
Name:SRSF6_1
Description:serine and arginine rich splicing factor 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382043,457,896 - 43,457,956EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10788 AgrOrtholog
COSMIC SRSF6 COSMIC
Ensembl Genes ENSG00000124193 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000244020 ENTREZGENE
  ENST00000244020.5 UniProtKB/Swiss-Prot
  ENST00000483871 ENTREZGENE
  ENST00000483871.6 UniProtKB/Swiss-Prot
  ENST00000662078.1 UniProtKB/TrEMBL
  ENST00000668808.1 UniProtKB/TrEMBL
  ENST00000670741.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000124193 GTEx
HGNC ID HGNC:10788 ENTREZGENE
Human Proteome Map SRSF6 Human Proteome Map
InterPro Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRT5_SRSF_SR UniProtKB/TrEMBL
  SRSF6_RRM1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6431 UniProtKB/Swiss-Prot
NCBI Gene 6431 ENTREZGENE
OMIM 601944 OMIM
PANTHER RIBONUCLEOPROTEIN RB97D UniProtKB/Swiss-Prot
  RIBONUCLEOPROTEIN RB97D UniProtKB/Swiss-Prot
  RIBONUCLEOPROTEIN RB97D UniProtKB/TrEMBL
  RIBONUCLEOPROTEIN RB97D UniProtKB/TrEMBL
  RNA RECOGNITION MOTIF RRM DOMAIN CONTAINING PROTEIN UniProtKB/TrEMBL
  SERINE/ARGININE-RICH SPLICING FACTOR 6 UniProtKB/TrEMBL
Pfam RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35704 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A590UJK4_HUMAN UniProtKB/TrEMBL
  A0A590UJP7_HUMAN UniProtKB/TrEMBL
  A0A590UK01_HUMAN UniProtKB/TrEMBL
  B5BU15 ENTREZGENE, UniProtKB/TrEMBL
  B7Z6J3 ENTREZGENE
  E1P5W6 ENTREZGENE
  L0R6Q2_HUMAN UniProtKB/TrEMBL
  Q13244 ENTREZGENE
  Q13245 ENTREZGENE
  Q13247 ENTREZGENE
  Q96J06 ENTREZGENE
  Q9UJB8 ENTREZGENE
  Q9Y3N7 ENTREZGENE
  SRSF6_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B7Z6J3 UniProtKB/Swiss-Prot
  E1P5W6 UniProtKB/Swiss-Prot
  Q13244 UniProtKB/Swiss-Prot
  Q13245 UniProtKB/Swiss-Prot
  Q96J06 UniProtKB/Swiss-Prot
  Q9UJB8 UniProtKB/Swiss-Prot
  Q9Y3N7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-14 SRSF6  serine and arginine rich splicing factor 6  SRSF6  serine/arginine-rich splicing factor 6  Symbol and/or name change 5135510 APPROVED
2011-07-27 SRSF6  serine/arginine-rich splicing factor 6  SFRS6  splicing factor, arginine/serine-rich 6  Symbol and/or name change 5135510 APPROVED