SWT1 (SWT1 RNA endoribonuclease homolog) - Rat Genome Database

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Gene: SWT1 (SWT1 RNA endoribonuclease homolog) Homo sapiens
Analyze
Symbol: SWT1
Name: SWT1 RNA endoribonuclease homolog
RGD ID: 1318617
HGNC Page HGNC:16785
Description: Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C1orf26; FLJ20121; FLJ35944; HsSwt1; hypothetical protein LOC54823; SWT1, RNA endoribonuclease homolog; transcriptional protein SWT1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381185,157,060 - 185,291,781 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1185,157,080 - 185,291,781 (+)EnsemblGRCh38hg38GRCh38
GRCh371185,126,192 - 185,260,913 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361183,392,815 - 183,527,536 (+)NCBINCBI36Build 36hg18NCBI36
Build 341181,857,947 - 181,992,475NCBI
Celera1158,236,887 - 158,371,608 (+)NCBICelera
Cytogenetic Map1q25.3NCBI
HuRef1156,361,485 - 156,496,278 (+)NCBIHuRef
CHM1_11186,547,897 - 186,682,667 (+)NCBICHM1_1
T2T-CHM13v2.01184,513,970 - 184,648,685 (+)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
nucleus  (IBA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:11318611   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16710414   PMID:19127978   PMID:19240061   PMID:20200978   PMID:20237496   PMID:21873635   PMID:23768067  
PMID:28065597   PMID:28218735   PMID:29987050   PMID:32393512   PMID:34349018  


Genomics

Comparative Map Data
SWT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381185,157,060 - 185,291,781 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1185,157,080 - 185,291,781 (+)EnsemblGRCh38hg38GRCh38
GRCh371185,126,192 - 185,260,913 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361183,392,815 - 183,527,536 (+)NCBINCBI36Build 36hg18NCBI36
Build 341181,857,947 - 181,992,475NCBI
Celera1158,236,887 - 158,371,608 (+)NCBICelera
Cytogenetic Map1q25.3NCBI
HuRef1156,361,485 - 156,496,278 (+)NCBIHuRef
CHM1_11186,547,897 - 186,682,667 (+)NCBICHM1_1
T2T-CHM13v2.01184,513,970 - 184,648,685 (+)NCBIT2T-CHM13v2.0
Swt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391151,243,449 - 151,304,248 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1151,243,450 - 151,304,206 (-)EnsemblGRCm39 Ensembl
GRCm381151,367,698 - 151,428,497 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1151,367,699 - 151,428,455 (-)EnsemblGRCm38mm10GRCm38
MGSCv371153,214,829 - 153,275,565 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361153,129,917 - 153,190,599 (-)NCBIMGSCv36mm8
Celera1153,797,344 - 153,857,430 (-)NCBICelera
Cytogenetic Map1G1NCBI
cM Map164.08NCBI
Swt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81366,002,477 - 66,059,962 (-)NCBIGRCr8
mRatBN7.21363,452,494 - 63,509,982 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1363,452,496 - 63,509,980 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1366,072,174 - 66,129,602 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01367,336,795 - 67,394,220 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01364,599,708 - 64,657,304 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01368,728,266 - 68,785,800 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1368,728,266 - 68,785,771 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01373,690,645 - 73,748,003 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41366,242,346 - 66,300,776 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11366,257,108 - 66,314,860 (-)NCBI
Celera1363,383,391 - 63,440,840 (-)NCBICelera
Cytogenetic Map13q21NCBI
Swt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540623,772,095 - 23,860,360 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540623,772,192 - 23,861,365 (+)NCBIChiLan1.0ChiLan1.0
SWT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2164,429,806 - 64,565,793 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1164,113,414 - 64,249,363 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01160,681,681 - 160,817,733 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11164,833,840 - 164,970,144 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1164,833,911 - 164,970,144 (+)Ensemblpanpan1.1panPan2
SWT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1718,329,901 - 18,425,017 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl718,329,813 - 18,458,508 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha717,914,272 - 18,009,274 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0718,062,669 - 18,157,444 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl718,062,717 - 18,157,442 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1717,972,143 - 18,067,111 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0718,080,011 - 18,174,771 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0718,210,975 - 18,306,027 (+)NCBIUU_Cfam_GSD_1.0
Swt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934487,092,484 - 87,177,317 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364814,939,218 - 5,019,062 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364814,939,232 - 5,024,058 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SWT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9126,347,517 - 126,481,803 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19126,347,193 - 126,453,726 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29138,792,979 - 138,900,710 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SWT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12544,109,306 - 44,232,238 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2544,109,276 - 44,229,632 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605545,314,789 - 45,438,461 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Swt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248148,300,836 - 8,394,444 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248148,300,886 - 8,398,617 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SWT1
58 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1 copy number loss See cases [RCV000051221] Chr1:175035040..186042595 [GRCh38]
Chr1:175004176..186011727 [GRCh37]
Chr1:173270799..184278350 [NCBI36]
Chr1:1q25.1-31.1		 pathogenic
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 copy number loss See cases [RCV000053948] Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1		 pathogenic
GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1 copy number loss See cases [RCV000053949] Chr1:182137726..186931125 [GRCh38]
Chr1:182106861..186900257 [GRCh37]
Chr1:180373484..185166880 [NCBI36]
Chr1:1q25.3-31.1		 pathogenic
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 copy number loss See cases [RCV000134144] Chr1:176595962..196301688 [GRCh38]
Chr1:176565098..196270818 [GRCh37]
Chr1:174831721..194537441 [NCBI36]
Chr1:1q25.2-31.3		 pathogenic
GRCh38/hg38 1q25.3(chr1:184102589-185593977)x1 copy number loss See cases [RCV000134192] Chr1:184102589..185593977 [GRCh38]
Chr1:184071723..185563109 [GRCh37]
Chr1:182338346..183829732 [NCBI36]
Chr1:1q25.3		 uncertain significance
GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1 copy number loss See cases [RCV000133938] Chr1:184888428..186622330 [GRCh38]
Chr1:184857562..186591462 [GRCh37]
Chr1:183124185..184858085 [NCBI36]
Chr1:1q25.3-31.1		 pathogenic
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 copy number gain See cases [RCV000134876] Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1		 pathogenic
GRCh38/hg38 1q25.3-31.1(chr1:184271950-186238594)x1 copy number loss See cases [RCV000137474] Chr1:184271950..186238594 [GRCh38]
Chr1:184241084..186207726 [GRCh37]
Chr1:182507707..184474349 [NCBI36]
Chr1:1q25.3-31.1		 uncertain significance
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 copy number loss See cases [RCV000142369] Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2		 pathogenic
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 copy number loss See cases [RCV000143688] Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1		 pathogenic
GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1 copy number loss See cases [RCV000240242] Chr1:181572003..191524283 [GRCh37]
Chr1:1q25.3-31.2		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 copy number loss See cases [RCV000448809] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 copy number loss See cases [RCV000448686] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 copy number loss See cases [RCV000512128] Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_017673.7(SWT1):c.2225C>T (p.Ser742Leu) single nucleotide variant not specified [RCV004333423] Chr1:185221952 [GRCh38]
Chr1:185191084 [GRCh37]
Chr1:1q25.3		 uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 copy number gain See cases [RCV000512520] Chr1:173138799..185129406 [GRCh37]
Chr1:1q25.1-25.3		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 copy number loss not provided [RCV000736735] Chr1:173131908..187406532 [GRCh37]
Chr1:1q25.1-31.1		 pathogenic
GRCh37/hg19 1q25.3(chr1:185106900-185128250)x3 copy number gain not provided [RCV000749264] Chr1:185106900..185128250 [GRCh37]
Chr1:1q25.3		 benign
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_017673.7(SWT1):c.506G>A (p.Ser169Asn) single nucleotide variant not specified [RCV004300509] Chr1:185174653 [GRCh38]
Chr1:185143785 [GRCh37]
Chr1:1q25.3		 uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 copy number loss not provided [RCV001005157] Chr1:177551193..199599056 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
NC_000001.11:g.185140652_185163497dup duplication Megacolon [RCV001290041] Chr1:185109784..185132629 [GRCh37]
Chr1:1q25.3		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) copy number loss not specified [RCV002053780] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1 copy number loss not provided [RCV001836604] Chr1:178522021..190322133 [GRCh37]
Chr1:1q25.2-31.1		 pathogenic
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) copy number loss not specified [RCV002053736] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265) copy number loss not specified [RCV002053769] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1 copy number loss not provided [RCV002473949] Chr1:179727182..192260142 [GRCh37]
Chr1:1q25.2-31.2		 pathogenic
NM_017673.7(SWT1):c.541G>C (p.Glu181Gln) single nucleotide variant not specified [RCV004078260] Chr1:185174688 [GRCh38]
Chr1:185143820 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.380G>A (p.Cys127Tyr) single nucleotide variant not specified [RCV004190405] Chr1:185174527 [GRCh38]
Chr1:185143659 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.2504A>T (p.Tyr835Phe) single nucleotide variant not specified [RCV004144019] Chr1:185271385 [GRCh38]
Chr1:185240517 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.638A>G (p.Gln213Arg) single nucleotide variant not specified [RCV004171337] Chr1:185174785 [GRCh38]
Chr1:185143917 [GRCh37]
Chr1:1q25.3		 uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3		 pathogenic
NM_017673.7(SWT1):c.2350A>G (p.Thr784Ala) single nucleotide variant not specified [RCV004149379] Chr1:185231617 [GRCh38]
Chr1:185200749 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.610G>A (p.Glu204Lys) single nucleotide variant not specified [RCV004141938] Chr1:185174757 [GRCh38]
Chr1:185143889 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.2339A>G (p.Asn780Ser) single nucleotide variant not specified [RCV004107164] Chr1:185231606 [GRCh38]
Chr1:185200738 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.2144A>G (p.Asn715Ser) single nucleotide variant not specified [RCV004080338] Chr1:185221871 [GRCh38]
Chr1:185191003 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.1966C>T (p.Arg656Cys) single nucleotide variant not specified [RCV004181612] Chr1:185206757 [GRCh38]
Chr1:185175889 [GRCh37]
Chr1:1q25.3		 likely benign
NM_017673.7(SWT1):c.1748C>A (p.Ser583Tyr) single nucleotide variant not specified [RCV004158093] Chr1:185204778 [GRCh38]
Chr1:185173910 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.671C>G (p.Pro224Arg) single nucleotide variant not specified [RCV004082501] Chr1:185174818 [GRCh38]
Chr1:185143950 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.932G>A (p.Ser311Asn) single nucleotide variant not specified [RCV004130159] Chr1:185175079 [GRCh38]
Chr1:185144211 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.1346C>T (p.Ala449Val) single nucleotide variant not specified [RCV004237403] Chr1:185184848 [GRCh38]
Chr1:185153980 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.857A>G (p.His286Arg) single nucleotide variant not specified [RCV004201544] Chr1:185175004 [GRCh38]
Chr1:185144136 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.1624G>A (p.Asp542Asn) single nucleotide variant not specified [RCV004158760] Chr1:185202754 [GRCh38]
Chr1:185171886 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.712A>G (p.Ile238Val) single nucleotide variant not specified [RCV004077071] Chr1:185174859 [GRCh38]
Chr1:185143991 [GRCh37]
Chr1:1q25.3		 likely benign
NM_017673.7(SWT1):c.1066A>G (p.Lys356Glu) single nucleotide variant not specified [RCV004173509] Chr1:185181985 [GRCh38]
Chr1:185151117 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.2027G>T (p.Ser676Ile) single nucleotide variant not specified [RCV004097065] Chr1:185214561 [GRCh38]
Chr1:185183693 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.1058G>A (p.Arg353His) single nucleotide variant not specified [RCV004078730] Chr1:185181977 [GRCh38]
Chr1:185151109 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.1672A>G (p.Thr558Ala) single nucleotide variant not specified [RCV004069975] Chr1:185204702 [GRCh38]
Chr1:185173834 [GRCh37]
Chr1:1q25.3		 likely benign
NM_017673.7(SWT1):c.2525A>G (p.Lys842Arg) single nucleotide variant not specified [RCV004207799] Chr1:185276620 [GRCh38]
Chr1:185245752 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.2347C>G (p.Leu783Val) single nucleotide variant not specified [RCV004193277] Chr1:185231614 [GRCh38]
Chr1:185200746 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.2530A>G (p.Thr844Ala) single nucleotide variant not specified [RCV004166795] Chr1:185276625 [GRCh38]
Chr1:185245757 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.1097G>A (p.Ser366Asn) single nucleotide variant not specified [RCV004206055] Chr1:185182016 [GRCh38]
Chr1:185151148 [GRCh37]
Chr1:1q25.3		 likely benign
NM_017673.7(SWT1):c.773A>G (p.Asn258Ser) single nucleotide variant not specified [RCV004085992] Chr1:185174920 [GRCh38]
Chr1:185144052 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.2686C>T (p.Leu896Phe) single nucleotide variant not specified [RCV004275018] Chr1:185290786 [GRCh38]
Chr1:185259918 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.56C>A (p.Thr19Asn) single nucleotide variant not specified [RCV004254281] Chr1:185160897 [GRCh38]
Chr1:185130029 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.800G>A (p.Arg267Lys) single nucleotide variant not specified [RCV004278616] Chr1:185174947 [GRCh38]
Chr1:185144079 [GRCh37]
Chr1:1q25.3		 likely benign
NM_017673.7(SWT1):c.1744G>A (p.Val582Ile) single nucleotide variant not specified [RCV004335034] Chr1:185204774 [GRCh38]
Chr1:185173906 [GRCh37]
Chr1:1q25.3		 likely benign
NM_017673.7(SWT1):c.5C>A (p.Ser2Tyr) single nucleotide variant not specified [RCV004335537] Chr1:185160846 [GRCh38]
Chr1:185129978 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.1600T>A (p.Leu534Ile) single nucleotide variant not specified [RCV004349331] Chr1:185202730 [GRCh38]
Chr1:185171862 [GRCh37]
Chr1:1q25.3		 uncertain significance
GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 copy number loss not specified [RCV003987250] Chr1:167994071..187711459 [GRCh37]
Chr1:1q24.2-31.1		 pathogenic
NM_017673.7(SWT1):c.2310C>T (p.Ser770=) single nucleotide variant not specified [RCV004463436] Chr1:185231577 [GRCh38]
Chr1:185200709 [GRCh37]
Chr1:1q25.3		 likely benign
NM_017673.7(SWT1):c.1228A>G (p.Thr410Ala) single nucleotide variant not specified [RCV004463429] Chr1:185184332 [GRCh38]
Chr1:185153464 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.17C>G (p.Ser6Cys) single nucleotide variant not specified [RCV004463432] Chr1:185160858 [GRCh38]
Chr1:185129990 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.658A>G (p.Ile220Val) single nucleotide variant not specified [RCV004463441] Chr1:185174805 [GRCh38]
Chr1:185143937 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.271T>A (p.Ser91Thr) single nucleotide variant not specified [RCV004463440] Chr1:185174418 [GRCh38]
Chr1:185143550 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.254G>T (p.Arg85Met) single nucleotide variant not specified [RCV004463438] Chr1:185174401 [GRCh38]
Chr1:185143533 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.734A>G (p.Gln245Arg) single nucleotide variant not specified [RCV004463442] Chr1:185174881 [GRCh38]
Chr1:185144013 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.886A>T (p.Thr296Ser) single nucleotide variant not specified [RCV004463443] Chr1:185175033 [GRCh38]
Chr1:185144165 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.215G>A (p.Gly72Glu) single nucleotide variant not specified [RCV004463435] Chr1:185168389 [GRCh38]
Chr1:185137521 [GRCh37]
Chr1:1q25.3		 likely benign
NM_017673.7(SWT1):c.1407A>G (p.Ile469Met) single nucleotide variant not specified [RCV004463430] Chr1:185184909 [GRCh38]
Chr1:185154041 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.980C>T (p.Pro327Leu) single nucleotide variant not specified [RCV004463444] Chr1:185180404 [GRCh38]
Chr1:185149536 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.2693A>G (p.Tyr898Cys) single nucleotide variant not specified [RCV004463439] Chr1:185290793 [GRCh38]
Chr1:185259925 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.2003A>C (p.Lys668Thr) single nucleotide variant not specified [RCV004463434] Chr1:185214537 [GRCh38]
Chr1:185183669 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.1612T>C (p.Ser538Pro) single nucleotide variant not specified [RCV004463431] Chr1:185202742 [GRCh38]
Chr1:185171874 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.838A>C (p.Thr280Pro) single nucleotide variant not specified [RCV004670789] Chr1:185174985 [GRCh38]
Chr1:185144117 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.2431G>A (p.Gly811Arg) single nucleotide variant not specified [RCV004670790] Chr1:185231698 [GRCh38]
Chr1:185200830 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.2585C>T (p.Thr862Ile) single nucleotide variant not specified [RCV004670791] Chr1:185290685 [GRCh38]
Chr1:185259817 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.907A>G (p.Lys303Glu) single nucleotide variant not specified [RCV004681792] Chr1:185175054 [GRCh38]
Chr1:185144186 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.2170A>G (p.Lys724Glu) single nucleotide variant not specified [RCV004681793] Chr1:185221897 [GRCh38]
Chr1:185191029 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.1926G>T (p.Lys642Asn) single nucleotide variant not specified [RCV004670785] Chr1:185206717 [GRCh38]
Chr1:185175849 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.884G>A (p.Arg295Gln) single nucleotide variant not specified [RCV004670786] Chr1:185175031 [GRCh38]
Chr1:185144163 [GRCh37]
Chr1:1q25.3		 likely benign
NM_017673.7(SWT1):c.347C>G (p.Ser116Cys) single nucleotide variant not specified [RCV004670787] Chr1:185174494 [GRCh38]
Chr1:185143626 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_017673.7(SWT1):c.2282G>C (p.Ser761Thr) single nucleotide variant not specified [RCV004670788] Chr1:185222009 [GRCh38]
Chr1:185191141 [GRCh37]
Chr1:1q25.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:549
Count of miRNA genes:391
Interacting mature miRNAs:422
Transcripts:ENST00000367500, ENST00000367501, ENST00000450350
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597223000GWAS1319074_Hmean platelet volume QTL GWAS1319074 (human)3e-08mean platelet volumemean platelet volume (CMO:0001348)1185272044185272045Human
597046371GWAS1142445_Halcoholic liver disease QTL GWAS1142445 (human)0.000009alcoholic liver disease1185241656185241657Human
597057201GWAS1153275_Hvitamin supplement exposure measurement, Cleft palate, cleft lip, parental genotype effect measurement QTL GWAS1153275 (human)0.000009vitamin supplement exposure measurement, Cleft palate, cleft lip, parental genotype effect measurement1185267380185267381Human
597315505GWAS1411579_Huric acid measurement QTL GWAS1411579 (human)1e-11uric acid measurementblood uric acid level (CMO:0000501)1185167326185167327Human
597106556GWAS1202630_Hgait measurement QTL GWAS1202630 (human)1e-08gait measurement1185168496185168497Human
597067005GWAS1163079_Hsusceptibility to common cold measurement QTL GWAS1163079 (human)0.000008susceptibility to common cold measurement1185197819185197820Human
597198675GWAS1294749_Htelomere length QTL GWAS1294749 (human)4e-12telomere length1185271342185271343Human
597031432GWAS1127506_Hcigarettes per day measurement QTL GWAS1127506 (human)2e-08cigarettes per day measurement1185157734185157735Human
596981898GWAS1101417_Htelomere length QTL GWAS1101417 (human)4e-12telomere length1185271342185271343Human

Markers in Region
D1S240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,190,008 - 185,190,248UniSTSGRCh37
GRCh371185,189,955 - 185,190,248UniSTSGRCh37
Build 361183,456,578 - 183,456,871RGDNCBI36
Celera1158,300,651 - 158,300,944RGD
Celera1158,300,704 - 158,300,944UniSTS
Cytogenetic Map1q25UniSTS
HuRef1156,425,380 - 156,425,614UniSTS
HuRef1156,425,327 - 156,425,614UniSTS
Marshfield Genetic Map1200.3RGD
Genethon Genetic Map1204.4UniSTS
TNG Radiation Hybrid Map188668.0UniSTS
deCODE Assembly Map1186.29UniSTS
Stanford-G3 RH Map17291.0UniSTS
GeneMap99-GB4 RH Map1639.22UniSTS
Whitehead-RH Map1796.0UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11578.7UniSTS
GeneMap99-G3 RH Map17247.0UniSTS
SHGC-76049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,260,551 - 185,260,723UniSTSGRCh37
Build 361183,527,174 - 183,527,346RGDNCBI36
Celera1158,371,246 - 158,371,418RGD
Cytogenetic Map1q25UniSTS
HuRef1156,495,916 - 156,496,088UniSTS
TNG Radiation Hybrid Map188631.0UniSTS
GeneMap99-GB4 RH Map1640.63UniSTS
NCBI RH Map11573.0UniSTS
WI-11204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,228,139 - 185,228,343UniSTSGRCh37
Build 361183,494,762 - 183,494,966RGDNCBI36
Celera1158,338,833 - 158,339,037RGD
Cytogenetic Map1q25UniSTS
HuRef1156,463,504 - 156,463,708UniSTS
Whitehead-RH Map1796.0UniSTS
D1S240  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q25UniSTS
Marshfield Genetic Map1200.3UniSTS
Genethon Genetic Map1204.4UniSTS
deCODE Assembly Map1186.29UniSTS
GeneMap99-GB4 RH Map1639.22UniSTS
Whitehead-RH Map1796.0UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11573.0UniSTS


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 2437 2788 2249 4971 1726 2351 5 623 1951 465 2269 7298 6465 53 3732 1 851 1741 1617 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001105518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF288392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI756018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB453411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB518900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000367500   ⟹   ENSP00000356470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,157,167 - 185,291,781 (+)Ensembl
Ensembl Acc Id: ENST00000367501   ⟹   ENSP00000356471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,157,080 - 185,291,007 (+)Ensembl
Ensembl Acc Id: ENST00000450350   ⟹   ENSP00000401413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,157,482 - 185,174,626 (+)Ensembl
RefSeq Acc Id: NM_001105518   ⟹   NP_001098988
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,157,060 - 185,291,781 (+)NCBI
GRCh371185,126,155 - 185,260,913 (+)NCBI
Build 361183,392,815 - 183,527,536 (+)NCBI Archive
Celera1158,236,887 - 158,371,608 (+)RGD
HuRef1156,361,485 - 156,496,278 (+)ENTREZGENE
CHM1_11186,547,897 - 186,682,667 (+)NCBI
T2T-CHM13v2.01184,513,970 - 184,648,685 (+)NCBI
Sequence:
RefSeq Acc Id: NM_017673   ⟹   NP_060143
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,157,167 - 185,291,781 (+)NCBI
GRCh371185,126,155 - 185,260,913 (+)NCBI
Build 361183,392,914 - 183,527,536 (+)NCBI Archive
Celera1158,236,887 - 158,371,608 (+)RGD
HuRef1156,361,485 - 156,496,278 (+)ENTREZGENE
CHM1_11186,547,996 - 186,682,667 (+)NCBI
T2T-CHM13v2.01184,514,077 - 184,648,685 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005245271   ⟹   XP_005245328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,157,060 - 185,291,781 (+)NCBI
GRCh371185,126,155 - 185,260,913 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005245273   ⟹   XP_005245330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,157,167 - 185,291,781 (+)NCBI
GRCh371185,126,155 - 185,260,913 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509657   ⟹   XP_011507959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,157,167 - 185,291,781 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001527   ⟹   XP_016857016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,157,167 - 185,291,781 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001528   ⟹   XP_016857017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,157,060 - 185,271,392 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001530   ⟹   XP_016857019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,157,060 - 185,265,082 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447752   ⟹   XP_024303520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,157,504 - 185,291,781 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447753   ⟹   XP_024303521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,157,704 - 185,291,781 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447754   ⟹   XP_024303522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,157,504 - 185,291,781 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423243   ⟹   XP_047279199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,157,504 - 185,291,781 (+)NCBI
RefSeq Acc Id: XM_047423246   ⟹   XP_047279202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,157,060 - 185,276,673 (+)NCBI
RefSeq Acc Id: XM_047423248   ⟹   XP_047279204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,166,627 - 185,291,781 (+)NCBI
RefSeq Acc Id: XM_047423249   ⟹   XP_047279205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,157,167 - 185,265,082 (+)NCBI
RefSeq Acc Id: XM_054337207   ⟹   XP_054193182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01184,514,077 - 184,648,685 (+)NCBI
RefSeq Acc Id: XM_054337208   ⟹   XP_054193183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01184,514,375 - 184,648,685 (+)NCBI
RefSeq Acc Id: XM_054337209   ⟹   XP_054193184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01184,514,107 - 184,648,685 (+)NCBI
RefSeq Acc Id: XM_054337210   ⟹   XP_054193185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01184,513,970 - 184,648,685 (+)NCBI
RefSeq Acc Id: XM_054337211   ⟹   XP_054193186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01184,514,579 - 184,648,685 (+)NCBI
RefSeq Acc Id: XM_054337212   ⟹   XP_054193187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01184,514,219 - 184,648,685 (+)NCBI
RefSeq Acc Id: XM_054337213   ⟹   XP_054193188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01184,514,404 - 184,648,685 (+)NCBI
RefSeq Acc Id: XM_054337214   ⟹   XP_054193189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01184,514,083 - 184,648,685 (+)NCBI
RefSeq Acc Id: XM_054337215   ⟹   XP_054193190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01184,513,970 - 184,633,577 (+)NCBI
RefSeq Acc Id: XM_054337216   ⟹   XP_054193191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01184,513,970 - 184,628,296 (+)NCBI
RefSeq Acc Id: XM_054337217   ⟹   XP_054193192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01184,523,536 - 184,648,685 (+)NCBI
RefSeq Acc Id: XM_054337218   ⟹   XP_054193193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01184,513,970 - 184,623,008 (+)NCBI
RefSeq Acc Id: XM_054337219   ⟹   XP_054193194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01184,514,107 - 184,623,007 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001098988 (Get FASTA)   NCBI Sequence Viewer  
  NP_060143 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245328 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245330 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507959 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857016 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857017 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857019 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303520 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303521 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303522 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279199 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279202 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279204 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279205 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193182 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193183 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193184 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193185 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193186 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193187 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193188 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193189 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193190 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193191 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193192 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193193 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193194 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG60612 (Get FASTA)   NCBI Sequence Viewer  
  AAH30781 (Get FASTA)   NCBI Sequence Viewer  
  BAA90960 (Get FASTA)   NCBI Sequence Viewer  
  BAF84132 (Get FASTA)   NCBI Sequence Viewer  
  BAG52678 (Get FASTA)   NCBI Sequence Viewer  
  BAG54611 (Get FASTA)   NCBI Sequence Viewer  
  EAW91191 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000356470
  ENSP00000356470.4
  ENSP00000356471
  ENSP00000356471.3
  ENSP00000401413.1
GenBank Protein Q5T5J6 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001098988   ⟸   NM_001105518
- UniProtKB: Q5T5J6 (UniProtKB/Swiss-Prot),   Q9BZQ7 (UniProtKB/Swiss-Prot),   Q8NEK9 (UniProtKB/Swiss-Prot),   Q9NXQ0 (UniProtKB/Swiss-Prot),   A8K5X8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_060143   ⟸   NM_017673
- UniProtKB: Q5T5J6 (UniProtKB/Swiss-Prot),   Q9BZQ7 (UniProtKB/Swiss-Prot),   Q8NEK9 (UniProtKB/Swiss-Prot),   Q9NXQ0 (UniProtKB/Swiss-Prot),   A8K5X8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005245328   ⟸   XM_005245271
- Peptide Label: isoform X1
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005245330   ⟸   XM_005245273
- Peptide Label: isoform X1
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507959   ⟸   XM_011509657
- Peptide Label: isoform X1
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857017   ⟸   XM_017001528
- Peptide Label: isoform X3
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857019   ⟸   XM_017001530
- Peptide Label: isoform X5
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857016   ⟸   XM_017001527
- Peptide Label: isoform X2
- UniProtKB: Q5T5J6 (UniProtKB/Swiss-Prot),   Q9BZQ7 (UniProtKB/Swiss-Prot),   Q8NEK9 (UniProtKB/Swiss-Prot),   Q9NXQ0 (UniProtKB/Swiss-Prot),   A8K5X8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303520   ⟸   XM_024447752
- Peptide Label: isoform X1
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303522   ⟸   XM_024447754
- Peptide Label: isoform X2
- UniProtKB: Q9BZQ7 (UniProtKB/Swiss-Prot),   Q8NEK9 (UniProtKB/Swiss-Prot),   Q5T5J6 (UniProtKB/Swiss-Prot),   Q9NXQ0 (UniProtKB/Swiss-Prot),   A8K5X8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303521   ⟸   XM_024447753
- Peptide Label: isoform X1
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000401413   ⟸   ENST00000450350
Ensembl Acc Id: ENSP00000356470   ⟸   ENST00000367500
Ensembl Acc Id: ENSP00000356471   ⟸   ENST00000367501
RefSeq Acc Id: XP_047279202   ⟸   XM_047423246
- Peptide Label: isoform X3
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279205   ⟸   XM_047423249
- Peptide Label: isoform X6
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279199   ⟸   XM_047423243
- Peptide Label: isoform X2
- UniProtKB: Q9BZQ7 (UniProtKB/Swiss-Prot),   Q8NEK9 (UniProtKB/Swiss-Prot),   Q5T5J6 (UniProtKB/Swiss-Prot),   Q9NXQ0 (UniProtKB/Swiss-Prot),   A8K5X8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279204   ⟸   XM_047423248
- Peptide Label: isoform X4
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193185   ⟸   XM_054337210
- Peptide Label: isoform X1
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193190   ⟸   XM_054337215
- Peptide Label: isoform X3
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193191   ⟸   XM_054337216
- Peptide Label: isoform X3
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193193   ⟸   XM_054337218
- Peptide Label: isoform X5
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193182   ⟸   XM_054337207
- Peptide Label: isoform X1
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193189   ⟸   XM_054337214
- Peptide Label: isoform X2
- UniProtKB: Q9BZQ7 (UniProtKB/Swiss-Prot),   Q8NEK9 (UniProtKB/Swiss-Prot),   Q5T5J6 (UniProtKB/Swiss-Prot),   Q9NXQ0 (UniProtKB/Swiss-Prot),   A8K5X8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193184   ⟸   XM_054337209
- Peptide Label: isoform X1
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193194   ⟸   XM_054337219
- Peptide Label: isoform X6
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193187   ⟸   XM_054337212
- Peptide Label: isoform X2
- UniProtKB: Q9BZQ7 (UniProtKB/Swiss-Prot),   Q8NEK9 (UniProtKB/Swiss-Prot),   Q5T5J6 (UniProtKB/Swiss-Prot),   Q9NXQ0 (UniProtKB/Swiss-Prot),   A8K5X8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193183   ⟸   XM_054337208
- Peptide Label: isoform X1
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193188   ⟸   XM_054337213
- Peptide Label: isoform X2
- UniProtKB: Q9BZQ7 (UniProtKB/Swiss-Prot),   Q8NEK9 (UniProtKB/Swiss-Prot),   Q5T5J6 (UniProtKB/Swiss-Prot),   Q9NXQ0 (UniProtKB/Swiss-Prot),   A8K5X8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193186   ⟸   XM_054337211
- Peptide Label: isoform X1
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193192   ⟸   XM_054337217
- Peptide Label: isoform X4
- UniProtKB: A8K5X8 (UniProtKB/TrEMBL)
Protein Domains
PIN   PINc

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5T5J6-F1-model_v2 AlphaFold Q5T5J6 1-900 view protein structure

Promoters
RGD ID:6784790
Promoter ID:HG_KWN:6546
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001105518,   NM_017673,   OTTHUMT00000085792
Position:
Human AssemblyChrPosition (strand)Source
Build 361183,391,906 - 183,393,347 (+)MPROMDB
RGD ID:6858392
Promoter ID:EPDNEW_H2361
Type:initiation region
Name:SWT1_2
Description:SWT1, RNA endoribonuclease homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2358  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,157,192 - 185,157,252EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16785 AgrOrtholog
COSMIC SWT1 COSMIC
Ensembl Genes ENSG00000116668 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000367500 ENTREZGENE
  ENST00000367500.9 UniProtKB/Swiss-Prot
  ENST00000367501 ENTREZGENE
  ENST00000367501.7 UniProtKB/Swiss-Prot
  ENST00000450350.1 UniProtKB/TrEMBL
Gene3D-CATH 5'-nuclease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000116668 GTEx
HGNC ID HGNC:16785 ENTREZGENE
Human Proteome Map SWT1 Human Proteome Map
InterPro PIN-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIN_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SWT1_Regulator UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54823 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54823 ENTREZGENE
OMIM 619513 OMIM
PANTHER TRANSCRIPTIONAL PROTEIN SWT1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UNCHARACTERIZED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PIN_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25613 PharmGKB
SMART PINc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF88723 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K5X8 ENTREZGENE, UniProtKB/TrEMBL
  B3KXU9_HUMAN UniProtKB/TrEMBL
  Q5T5J6 ENTREZGENE
  Q5TC96_HUMAN UniProtKB/TrEMBL
  Q8NEK9 ENTREZGENE
  Q9BZQ7 ENTREZGENE
  Q9NXQ0 ENTREZGENE
  SWT1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8NEK9 UniProtKB/Swiss-Prot
  Q9BZQ7 UniProtKB/Swiss-Prot
  Q9NXQ0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 SWT1  SWT1 RNA endoribonuclease homolog    SWT1, RNA endoribonuclease homolog  Symbol and/or name change 5135510 APPROVED
2015-12-01 SWT1  SWT1, RNA endoribonuclease homolog    SWT1 RNA endoribonuclease homolog  Symbol and/or name change 5135510 APPROVED
2015-09-29 SWT1  SWT1 RNA endoribonuclease homolog    SWT1 RNA endoribonuclease homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2011-07-27 SWT1  SWT1 RNA endoribonuclease homolog (S. cerevisiae)  C1orf26  chromosome 1 open reading frame 26  Symbol and/or name change 5135510 APPROVED