SNW1 (SNW domain containing 1) - Rat Genome Database

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Pathways
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Gene: SNW1 (SNW domain containing 1) Homo sapiens
Analyze
Symbol: SNW1
Name: SNW domain containing 1
RGD ID: 1321977
HGNC Page HGNC:16696
Description: Enables several functions, including Notch binding activity; nuclear receptor binding activity; and transcription coregulator activity. Involved in several processes, including intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; regulation of RNA metabolic process; and regulation of signal transduction. Acts upstream of or within negative regulation of DNA-templated transcription. Located in cyclin/CDK positive transcription elongation factor complex; nuclear matrix; and nuclear speck. Part of U2-type catalytic step 2 spliceosome. Implicated in breast cancer and pancreatic cancer. Biomarker of breast carcinoma and hepatocellular carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Bx42; FUN20; homolog of Drosophila BX42; MGC119379; NCOA-62; nuclear protein SkiP; nuclear receptor coactivator NCoA-62; nuclear receptor coactivator, 62-kD; Prp45; PRPF45; SKI interacting protein; SKI-interacting protein; SKIIP; SKIP; SKIP1; SNW domain-containing protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC104837.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381477,717,599 - 77,761,156 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1477,717,599 - 77,761,207 (-)EnsemblGRCh38hg38GRCh38
GRCh371478,183,942 - 78,227,499 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361477,253,695 - 77,297,250 (-)NCBINCBI36Build 36hg18NCBI36
Build 341477,253,696 - 77,297,250NCBI
Celera1458,222,440 - 58,266,009 (-)NCBICelera
Cytogenetic Map14q24.3NCBI
HuRef1458,349,919 - 58,393,992 (-)NCBIHuRef
CHM1_11478,123,415 - 78,166,965 (-)NCBICHM1_1
T2T-CHM13v2.01471,926,934 - 71,971,187 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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 and beyond: the many faces of the Prp19 complex. Chanarat S and Strasser K, Biochim Biophys Acta. 2013 Oct;1833(10):2126-34. doi: 10.1016/j.bbamcr.2013.05.023. Epub 2013 Jun 3.
2. Up-regulation of ski-interacting protein in rat brain cortex after traumatic brain injury. Chen J, etal., J Mol Histol. 2013 Feb;44(1):1-10. doi: 10.1007/s10735-012-9444-9. Epub 2012 Sep 11.
3. Association of mitotic regulation pathway polymorphisms with pancreatic cancer risk and outcome. Couch FJ, etal., Cancer Epidemiol Biomarkers Prev. 2010 Jan;19(1):251-7. doi: 10.1158/1055-9965.EPI-09-0629.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. High SKIP expression is correlated with poor prognosis and cell proliferation of hepatocellular carcinoma. Liu G, etal., Med Oncol. 2013;30(3):537. doi: 10.1007/s12032-013-0537-4. Epub 2013 May 22.
6. Expression and prognostic role of SKIP in human breast carcinoma. Liu X, etal., J Mol Histol. 2014 Apr;45(2):169-80. doi: 10.1007/s10735-013-9546-z. Epub 2013 Oct 23.
7. Variation in genes required for normal mitosis and risk of breast cancer. Olson JE, etal., Breast Cancer Res Treat. 2010 Jan;119(2):423-30. Epub 2009 Apr 18.
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Spatiotemporal expression of SKIP after rat sciatic nerve crush. Wang Y, etal., Neurochem Res. 2013 Apr;38(4):857-65. doi: 10.1007/s11064-013-0990-7. Epub 2013 Feb 7.
11. Up-regulation of SKIP relates to retinal ganglion cells apoptosis after optic nerve crush in vivo. Wu Y, etal., J Mol Histol. 2014 Dec;45(6):715-21. doi: 10.1007/s10735-014-9589-9. Epub 2014 Jul 30.
Additional References at PubMed
PMID:9569025   PMID:9632709   PMID:10644367   PMID:10713164   PMID:11278756   PMID:11371506   PMID:11404076   PMID:11509665   PMID:11514567   PMID:11522815   PMID:11991638   PMID:12101239  
PMID:12466551   PMID:12477932   PMID:12508107   PMID:12508121   PMID:12529369   PMID:12549820   PMID:12650714   PMID:12840015   PMID:14985122   PMID:15194481   PMID:15316101   PMID:15489334  
PMID:15546612   PMID:15604093   PMID:15635413   PMID:15878163   PMID:15905409   PMID:16002321   PMID:16083285   PMID:16102918   PMID:16159877   PMID:16169070   PMID:16595688   PMID:16616143  
PMID:17573339   PMID:17643375   PMID:18029348   PMID:18654987   PMID:18729074   PMID:18794151   PMID:18854154   PMID:18996344   PMID:19490893   PMID:19616115   PMID:19650074   PMID:19818711  
PMID:19852851   PMID:19934264   PMID:20007319   PMID:20211142   PMID:20227660   PMID:20360068   PMID:20368803   PMID:20467437   PMID:20508642   PMID:20965173   PMID:21145461   PMID:21460037  
PMID:21461980   PMID:21639856   PMID:21900206   PMID:22172677   PMID:22365833   PMID:22586326   PMID:22658674   PMID:22681889   PMID:22872573   PMID:22939629   PMID:22944692   PMID:23084401  
PMID:23443559   PMID:23566155   PMID:23752268   PMID:24104479   PMID:24163370   PMID:24457600   PMID:24565118   PMID:24705354   PMID:24711643   PMID:25257309   PMID:25277244   PMID:25416956  
PMID:25450007   PMID:25500191   PMID:25649263   PMID:25849387   PMID:25908847   PMID:25921289   PMID:26186194   PMID:26209609   PMID:26344197   PMID:26393790   PMID:26496610   PMID:26641092  
PMID:26949251   PMID:26972000   PMID:27543864   PMID:27609421   PMID:27634302   PMID:27684187   PMID:28076346   PMID:28225217   PMID:28302793   PMID:28325809   PMID:28459460   PMID:28514442  
PMID:28515276   PMID:28561026   PMID:28666867   PMID:28675297   PMID:28700943   PMID:28838205   PMID:28977666   PMID:29298432   PMID:29384474   PMID:29395067   PMID:29467282   PMID:29509190  
PMID:29568061   PMID:29721183   PMID:29773831   PMID:29844126   PMID:30021884   PMID:30344098   PMID:30397075   PMID:30404004   PMID:30415952   PMID:30419336   PMID:30463901   PMID:30572598  
PMID:30585729   PMID:30642633   PMID:30737378   PMID:30804502   PMID:30890647   PMID:30940648   PMID:30948266   PMID:31010829   PMID:31043167   PMID:31076518   PMID:31091453   PMID:31180492  
PMID:31239290   PMID:31267705   PMID:31280863   PMID:31363146   PMID:31391242   PMID:31505169   PMID:31515488   PMID:31553912   PMID:31586073   PMID:31617661   PMID:31927035   PMID:32129710  
PMID:32296183   PMID:32416067   PMID:32433965   PMID:32538781   PMID:32640226   PMID:32687490   PMID:32694731   PMID:32744500   PMID:32786267   PMID:32805409   PMID:32807901   PMID:32814053  
PMID:32850835   PMID:32908313   PMID:32994395   PMID:33220177   PMID:33397691   PMID:33417871   PMID:33729478   PMID:33731348   PMID:33742100   PMID:33903120   PMID:33916271   PMID:33957083  
PMID:33961781   PMID:34079125   PMID:34133714   PMID:34373451   PMID:34597346   PMID:34728620   PMID:34795231   PMID:34831298   PMID:35013218   PMID:35066290   PMID:35140242   PMID:35271311  
PMID:35439318   PMID:35545047   PMID:35652658   PMID:35785414   PMID:35831314   PMID:35850772   PMID:35944360   PMID:35987950   PMID:36057605   PMID:36215168   PMID:36232890   PMID:36244648  
PMID:36373674   PMID:36398662   PMID:36424410   PMID:36526897   PMID:36604567   PMID:36634849   PMID:36929488   PMID:37071664   PMID:37689310   PMID:37827155   PMID:38113892   PMID:38280479  


Genomics

Comparative Map Data
SNW1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381477,717,599 - 77,761,156 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1477,717,599 - 77,761,207 (-)EnsemblGRCh38hg38GRCh38
GRCh371478,183,942 - 78,227,499 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361477,253,695 - 77,297,250 (-)NCBINCBI36Build 36hg18NCBI36
Build 341477,253,696 - 77,297,250NCBI
Celera1458,222,440 - 58,266,009 (-)NCBICelera
Cytogenetic Map14q24.3NCBI
HuRef1458,349,919 - 58,393,992 (-)NCBIHuRef
CHM1_11478,123,415 - 78,166,965 (-)NCBICHM1_1
T2T-CHM13v2.01471,926,934 - 71,971,187 (-)NCBIT2T-CHM13v2.0
Snw1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391287,496,680 - 87,519,069 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1287,495,845 - 87,519,044 (-)EnsemblGRCm39 Ensembl
GRCm381287,449,910 - 87,472,299 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1287,449,075 - 87,472,274 (-)EnsemblGRCm38mm10GRCm38
MGSCv371288,790,860 - 88,813,249 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361288,339,401 - 88,349,540 (-)NCBIMGSCv36mm8
Celera1288,914,532 - 88,936,919 (-)NCBICelera
Cytogenetic Map12D2NCBI
cM Map1241.67NCBI
Snw1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86112,826,374 - 112,850,459 (-)NCBIGRCr8
mRatBN7.26107,095,450 - 107,119,536 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6107,095,457 - 107,119,536 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6107,264,352 - 107,288,363 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06107,563,169 - 107,587,180 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06106,932,867 - 106,956,881 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06111,483,698 - 111,507,782 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6111,483,703 - 111,507,782 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06120,764,412 - 120,788,496 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46111,688,742 - 111,712,826 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera6104,915,183 - 104,939,184 (-)NCBICelera
Cytogenetic Map6q31NCBI
Snw1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554381,561,568 - 1,601,492 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554381,561,562 - 1,601,492 (-)NCBIChiLan1.0ChiLan1.0
SNW1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21578,803,745 - 78,848,492 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11478,020,250 - 78,064,997 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01458,271,830 - 58,315,773 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11477,472,381 - 77,517,314 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1477,472,387 - 77,517,315 (-)Ensemblpanpan1.1panPan2
SNW1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1850,478,924 - 50,512,360 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl850,479,338 - 50,512,243 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha850,166,344 - 50,199,802 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0850,713,229 - 50,746,681 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl850,713,236 - 50,746,564 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1850,375,212 - 50,408,764 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0850,398,347 - 50,432,000 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0850,797,025 - 50,830,653 (-)NCBIUU_Cfam_GSD_1.0
Snw1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864025,537,625 - 25,574,412 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364886,494,562 - 6,531,600 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364886,494,556 - 6,531,297 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SNW1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl7100,718,036 - 100,749,356 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.17100,718,298 - 100,749,414 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SNW1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12454,976,597 - 55,020,051 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2454,977,083 - 55,019,988 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605343,163,503 - 43,207,653 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Snw1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473424,161,662 - 24,191,937 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473424,161,974 - 24,191,943 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SNW1
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1 copy number loss See cases [RCV000051548] Chr14:73877072..78042422 [GRCh38]
Chr14:74343775..78508765 [GRCh37]
Chr14:73413528..77578518 [NCBI36]
Chr14:14q24.3		 pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1 copy number loss See cases [RCV000051549] Chr14:75489052..79610332 [GRCh38]
Chr14:75955395..80076675 [GRCh37]
Chr14:75025148..79146428 [NCBI36]
Chr14:14q24.3-31.1		 pathogenic
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 copy number loss See cases [RCV000134154] Chr14:69562099..81975384 [GRCh38]
Chr14:70028816..82441728 [GRCh37]
Chr14:69098569..81511481 [NCBI36]
Chr14:14q24.1-31.1		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1 copy number loss See cases [RCV000137421] Chr14:77193005..80476132 [GRCh38]
Chr14:77659348..80942475 [GRCh37]
Chr14:76729101..80012228 [NCBI36]
Chr14:14q24.3-31.1		 likely pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1 copy number loss See cases [RCV000143265] Chr14:73343213..78835059 [GRCh38]
Chr14:73809921..79301402 [GRCh37]
Chr14:72879674..78371155 [NCBI36]
Chr14:14q24.3-31.1		 pathogenic|likely pathogenic
GRCh37/hg19 14q24.3(chr14:78146198-78504237)x3 copy number gain See cases [RCV000240255] Chr14:78146198..78504237 [GRCh37]
Chr14:14q24.3		 uncertain significance
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q24.3-31.1(chr14:78146198-79579214)x3 copy number gain See cases [RCV000445984] Chr14:78146198..79579214 [GRCh37]
Chr14:14q24.3-31.1		 uncertain significance
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
GRCh37/hg19 14q24.3(chr14:78146198-78205077)x3 copy number gain See cases [RCV000448305] Chr14:78146198..78205077 [GRCh37]
Chr14:14q24.3		 benign
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q24.3(chr14:76082940-78372356)x1 copy number loss See cases [RCV000511668] Chr14:76082940..78372356 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_012245.3(SNW1):c.1208A>G (p.Asn403Ser) single nucleotide variant Inborn genetic diseases [RCV003259332] Chr14:77720751 [GRCh38]
Chr14:78187094 [GRCh37]
Chr14:14q24.3		 uncertain significance
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33		 pathogenic
NM_012245.3(SNW1):c.584G>T (p.Arg195Met) single nucleotide variant not provided [RCV000658702] Chr14:77737025 [GRCh38]
Chr14:78203368 [GRCh37]
Chr14:14q24.3		 uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1 copy number loss not provided [RCV000847566] Chr14:77274990..89803137 [GRCh37]
Chr14:14q24.3-32.11		 pathogenic
GRCh37/hg19 14q24.3-31.1(chr14:78075661-79605863)x4 copy number gain not provided [RCV001259789] Chr14:78075661..79605863 [GRCh37]
Chr14:14q24.3-31.1		 uncertain significance
GRCh37/hg19 14q24.3(chr14:77862909-78274607) copy number gain not specified [RCV002053114] Chr14:77862909..78274607 [GRCh37]
Chr14:14q24.3		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_012245.3(SNW1):c.192T>G (p.Phe64Leu) single nucleotide variant Inborn genetic diseases [RCV002840094] Chr14:77751457 [GRCh38]
Chr14:78217800 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_012245.3(SNW1):c.475G>A (p.Val159Ile) single nucleotide variant Inborn genetic diseases [RCV002706804] Chr14:77738836 [GRCh38]
Chr14:78205179 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_012245.3(SNW1):c.830C>T (p.Thr277Ile) single nucleotide variant Inborn genetic diseases [RCV002848674] Chr14:77732546 [GRCh38]
Chr14:78198889 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_012245.3(SNW1):c.606G>A (p.Met202Ile) single nucleotide variant Inborn genetic diseases [RCV002719452] Chr14:77737003 [GRCh38]
Chr14:78203346 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_012245.3(SNW1):c.1154A>G (p.Asn385Ser) single nucleotide variant Inborn genetic diseases [RCV002961592] Chr14:77720805 [GRCh38]
Chr14:78187148 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_012245.3(SNW1):c.293A>C (p.Tyr98Ser) single nucleotide variant Inborn genetic diseases [RCV002944483] Chr14:77751356 [GRCh38]
Chr14:78217699 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_012245.3(SNW1):c.912G>A (p.Met304Ile) single nucleotide variant Inborn genetic diseases [RCV003198567] Chr14:77731109 [GRCh38]
Chr14:78197452 [GRCh37]
Chr14:14q24.3		 uncertain significance
NM_012245.3(SNW1):c.1090C>G (p.Gln364Glu) single nucleotide variant Inborn genetic diseases [RCV003374062] Chr14:77723221 [GRCh38]
Chr14:78189564 [GRCh37]
Chr14:14q24.3		 uncertain significance
GRCh37/hg19 14q24.3(chr14:77885734-78292290)x3 copy number gain not provided [RCV003485045] Chr14:77885734..78292290 [GRCh37]
Chr14:14q24.3		 uncertain significance
GRCh37/hg19 14q24.3-31.1(chr14:78078206-79605613)x3 copy number gain not provided [RCV003485046] Chr14:78078206..79605613 [GRCh37]
Chr14:14q24.3-31.1		 uncertain significance
GRCh37/hg19 14q24.3(chr14:78152921-78505776)x3 copy number gain not provided [RCV003485047] Chr14:78152921..78505776 [GRCh37]
Chr14:14q24.3		 uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
NM_012245.3(SNW1):c.295G>A (p.Asp99Asn) single nucleotide variant Inborn genetic diseases [RCV002959901] Chr14:77751354 [GRCh38]
Chr14:78217697 [GRCh37]
Chr14:14q24.3		 uncertain significance
GRCh37/hg19 14q24.3-31.1(chr14:78146198-79579273)x4 copy number gain See cases [RCV000240478] Chr14:78146198..79579273 [GRCh37]
Chr14:14q24.3-31.1		 uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1370
Count of miRNA genes:685
Interacting mature miRNAs:788
Transcripts:ENST00000261531, ENST00000553565, ENST00000554324, ENST00000554775, ENST00000555761, ENST00000556428, ENST00000557663
Prediction methods:Miranda, Rnahybrid
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.

Markers in Region
G36348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,193,177 - 78,193,379UniSTSGRCh37
Build 361477,262,930 - 77,263,132RGDNCBI36
Celera1458,231,684 - 58,231,886RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,359,224 - 58,359,426UniSTS
SNW1_2342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,183,885 - 78,184,564UniSTSGRCh37
Build 361477,253,638 - 77,254,317RGDNCBI36
Celera1458,222,383 - 58,223,062RGD
HuRef1458,349,862 - 58,350,541UniSTS
D14S120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,224,223 - 78,224,455UniSTSGRCh37
Build 361477,293,976 - 77,294,208RGDNCBI36
Celera1458,262,727 - 58,262,967RGD
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p22.3UniSTS
HuRef1458,390,711 - 58,390,947UniSTS
HuRef184,589,157 - 84,589,902UniSTS
D14S857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,183,973 - 78,184,247UniSTSGRCh37
Build 361477,253,726 - 77,254,000RGDNCBI36
Celera1458,222,471 - 58,222,745RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,349,950 - 58,350,224UniSTS
Whitehead-YAC Contig Map14 UniSTS
G35431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,186,320 - 78,186,505UniSTSGRCh37
Build 361477,256,073 - 77,256,258RGDNCBI36
Celera1458,224,818 - 58,225,003RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,352,358 - 58,352,543UniSTS
SHGC-75044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37179,215,427 - 79,215,651UniSTSGRCh37
Build 36178,988,015 - 78,988,239RGDNCBI36
Celera177,455,024 - 77,455,248RGD
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p31.1UniSTS
HuRef177,347,105 - 77,347,329UniSTS
TNG Radiation Hybrid Map144407.0UniSTS
GeneMap99-GB4 RH Map1210.12UniSTS
NCBI RH Map1518.0UniSTS
A009H42  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,188,649 - 78,188,750UniSTSGRCh37
Build 361477,258,402 - 77,258,503RGDNCBI36
Celera1458,227,155 - 58,227,256RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,354,695 - 58,354,796UniSTS
GeneMap99-GB4 RH Map14208.94UniSTS
D14S691E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q24.3UniSTS
G32556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,188,649 - 78,188,750UniSTSGRCh37
Celera1458,227,155 - 58,227,256UniSTS
Cytogenetic Map14q24.3UniSTS
HuRef1458,354,695 - 58,354,796UniSTS
RH70062  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q24.3UniSTS
HuRef1458,354,613 - 58,354,756UniSTS
GeneMap99-GB4 RH Map14208.94UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2437 2864 1704 604 1914 445 4357 2112 3601 416 1459 1612 175 1 1204 2788 6 2
Low 2 127 22 20 37 20 85 133 3 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001318844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005267413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF045184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX775981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U43960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U51432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261531   ⟹   ENSP00000261531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1477,717,599 - 77,761,156 (-)Ensembl
RefSeq Acc Id: ENST00000553565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1477,730,856 - 77,737,007 (-)Ensembl
RefSeq Acc Id: ENST00000554324   ⟹   ENSP00000452473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1477,732,539 - 77,761,156 (-)Ensembl
RefSeq Acc Id: ENST00000554775   ⟹   ENSP00000452059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1477,717,628 - 77,761,155 (-)Ensembl
RefSeq Acc Id: ENST00000555761   ⟹   ENSP00000451129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1477,717,953 - 77,761,156 (-)Ensembl
RefSeq Acc Id: ENST00000556428   ⟹   ENSP00000451741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1477,717,791 - 77,761,207 (-)Ensembl
RefSeq Acc Id: ENST00000557663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1477,738,738 - 77,761,156 (-)Ensembl
RefSeq Acc Id: NM_001318844   ⟹   NP_001305773
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381477,717,599 - 77,761,156 (-)NCBI
CHM1_11478,123,415 - 78,166,965 (-)NCBI
T2T-CHM13v2.01471,926,934 - 71,970,504 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012245   ⟹   NP_036377
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381477,717,599 - 77,761,156 (-)NCBI
GRCh371478,183,942 - 78,227,542 (-)NCBI
Build 361477,253,695 - 77,297,250 (-)NCBI Archive
HuRef1458,349,919 - 58,393,992 (-)ENTREZGENE
CHM1_11478,123,415 - 78,166,965 (-)NCBI
T2T-CHM13v2.01471,926,934 - 71,970,504 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047431112   ⟹   XP_047287068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381477,718,367 - 77,761,156 (-)NCBI
RefSeq Acc Id: XM_054375608   ⟹   XP_054231583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01471,926,934 - 71,971,187 (-)NCBI
RefSeq Acc Id: XM_054375609   ⟹   XP_054231584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01471,927,702 - 71,970,504 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001305773 (Get FASTA)   NCBI Sequence Viewer  
  NP_036377 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287068 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231583 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231584 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB48857 (Get FASTA)   NCBI Sequence Viewer  
  AAC15912 (Get FASTA)   NCBI Sequence Viewer  
  AAC31697 (Get FASTA)   NCBI Sequence Viewer  
  AAF01479 (Get FASTA)   NCBI Sequence Viewer  
  AAF23325 (Get FASTA)   NCBI Sequence Viewer  
  AAH40112 (Get FASTA)   NCBI Sequence Viewer  
  AAH46105 (Get FASTA)   NCBI Sequence Viewer  
  AAH65286 (Get FASTA)   NCBI Sequence Viewer  
  AAI05586 (Get FASTA)   NCBI Sequence Viewer  
  AAI08904 (Get FASTA)   NCBI Sequence Viewer  
  AAV38863 (Get FASTA)   NCBI Sequence Viewer  
  AAV38864 (Get FASTA)   NCBI Sequence Viewer  
  BAF84963 (Get FASTA)   NCBI Sequence Viewer  
  BAG57078 (Get FASTA)   NCBI Sequence Viewer  
  BAG63598 (Get FASTA)   NCBI Sequence Viewer  
  BAH14458 (Get FASTA)   NCBI Sequence Viewer  
  CAE11690 (Get FASTA)   NCBI Sequence Viewer  
  CAG33714 (Get FASTA)   NCBI Sequence Viewer  
  EAW81305 (Get FASTA)   NCBI Sequence Viewer  
  EAW81306 (Get FASTA)   NCBI Sequence Viewer  
  EAW81307 (Get FASTA)   NCBI Sequence Viewer  
  EAW81308 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000261531
  ENSP00000261531.8
  ENSP00000451129
  ENSP00000451129.1
  ENSP00000451741.1
  ENSP00000452059.1
  ENSP00000452473.1
GenBank Protein Q13573 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_036377   ⟸   NM_012245
- Peptide Label: isoform 2
- UniProtKB: Q32N03 (UniProtKB/Swiss-Prot),   Q13483 (UniProtKB/Swiss-Prot),   A8K8A9 (UniProtKB/Swiss-Prot),   Q5D0D6 (UniProtKB/Swiss-Prot),   Q13573 (UniProtKB/Swiss-Prot),   Q6I9S2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305773   ⟸   NM_001318844
- Peptide Label: isoform 1
- UniProtKB: G3V3A4 (UniProtKB/TrEMBL),   B4DEG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000451129   ⟸   ENST00000555761
RefSeq Acc Id: ENSP00000451741   ⟸   ENST00000556428
RefSeq Acc Id: ENSP00000261531   ⟸   ENST00000261531
RefSeq Acc Id: ENSP00000452473   ⟸   ENST00000554324
RefSeq Acc Id: ENSP00000452059   ⟸   ENST00000554775
RefSeq Acc Id: XP_047287068   ⟸   XM_047431112
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054231583   ⟸   XM_054375608
- Peptide Label: isoform X2
- UniProtKB: Q32N03 (UniProtKB/Swiss-Prot),   Q13573 (UniProtKB/Swiss-Prot),   Q13483 (UniProtKB/Swiss-Prot),   A8K8A9 (UniProtKB/Swiss-Prot),   Q5D0D6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054231584   ⟸   XM_054375609
- Peptide Label: isoform X1
Protein Domains
SKI-interacting protein SKIP SNW

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13573-F1-model_v2 AlphaFold Q13573 1-536 view protein structure

Promoters
RGD ID:6791894
Promoter ID:HG_KWN:19873
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:NM_012245,   UC010ASU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361477,296,979 - 77,297,479 (-)MPROMDB
RGD ID:6852126
Promoter ID:EP73869
Type:initiation region
Name:HS_SNW1
Description:SKI-interacting protein.
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 361477,297,252 - 77,297,312EPD
RGD ID:7228267
Promoter ID:EPDNEW_H19879
Type:initiation region
Name:SNW1_1
Description:SNW domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381477,761,156 - 77,761,216EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16696 AgrOrtholog
COSMIC SNW1 COSMIC
Ensembl Genes ENSG00000100603 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261531 ENTREZGENE
  ENST00000261531.12 UniProtKB/Swiss-Prot
  ENST00000554324.1 UniProtKB/TrEMBL
  ENST00000554775.5 UniProtKB/TrEMBL
  ENST00000555761 ENTREZGENE
  ENST00000555761.5 UniProtKB/TrEMBL
  ENST00000556428.5 UniProtKB/TrEMBL
GTEx ENSG00000100603 GTEx
HGNC ID HGNC:16696 ENTREZGENE
Human Proteome Map SNW1 Human Proteome Map
InterPro SKI-int_prot_SKIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKI-int_prot_SKIP_SNW-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22938 UniProtKB/Swiss-Prot
NCBI Gene 22938 ENTREZGENE
OMIM 603055 OMIM
PANTHER PTHR12096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNW DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SKIP_SNW UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134883977 PharmGKB
UniProt A8K8A9 ENTREZGENE
  B4DEG7 ENTREZGENE, UniProtKB/TrEMBL
  G3V3A4 ENTREZGENE, UniProtKB/TrEMBL
  G3V4E0_HUMAN UniProtKB/TrEMBL
  G3V4X8_HUMAN UniProtKB/TrEMBL
  G3V5R3_HUMAN UniProtKB/TrEMBL
  Q0D2M5_HUMAN UniProtKB/TrEMBL
  Q13483 ENTREZGENE
  Q13573 ENTREZGENE
  Q32N03 ENTREZGENE
  Q5D0D6 ENTREZGENE
  Q6I9S2 ENTREZGENE, UniProtKB/TrEMBL
  Q6P151_HUMAN UniProtKB/TrEMBL
  SNW1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K8A9 UniProtKB/Swiss-Prot
  Q13483 UniProtKB/Swiss-Prot
  Q32N03 UniProtKB/Swiss-Prot
  Q5D0D6 UniProtKB/Swiss-Prot