SUPV3L1 (Suv3 like RNA helicase) - Rat Genome Database

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Gene: SUPV3L1 (Suv3 like RNA helicase) Homo sapiens
Analyze
Symbol: SUPV3L1
Name: Suv3 like RNA helicase
RGD ID: 1313667
HGNC Page HGNC:11471
Description: Enables helicase activity; nucleic acid binding activity; and protein homodimerization activity. Involved in several processes, including DNA duplex unwinding; mitochondrial RNA metabolic process; and positive regulation of mitochondrial RNA catabolic process. Located in mitochondrial nucleoid and nucleus. Part of mitochondrial degradosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ATP-dependent RNA helicase SUPV3L1, mitochondrial; suppressor of var1 3-like protein 1; suppressor of var1, 3-like 1; suppressor of var1, 3-like 1(SUV3); SUV3; SUV3-like helicase; SUV3-like protein 1
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
GRCh381069,180,234 - 69,209,093 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1069,180,234 - 69,209,099 (+)EnsemblGRCh38hg38GRCh38
GRCh371070,939,990 - 70,968,849 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361070,609,999 - 70,638,855 (+)NCBINCBI36Build 36hg18NCBI36
Build 341070,609,998 - 70,638,855NCBI
Celera1064,215,826 - 64,244,691 (+)NCBICelera
Cytogenetic Map10q22.1NCBI
HuRef1064,939,986 - 64,968,855 (+)NCBIHuRef
CHM1_11071,221,740 - 71,250,602 (+)NCBICHM1_1
T2T-CHM13v2.01070,048,571 - 70,077,444 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7566098   PMID:8889548   PMID:9925937   PMID:11154739   PMID:12466530   PMID:12477932   PMID:15096047   PMID:15919122   PMID:16176273   PMID:16385451   PMID:17352692   PMID:17373700  
PMID:17961633   PMID:18063578   PMID:18678873   PMID:19322201   PMID:19509288   PMID:19864255   PMID:20186120   PMID:20467437   PMID:20877624   PMID:21145461   PMID:21873635   PMID:22610502  
PMID:22658674   PMID:22681889   PMID:23221631   PMID:23903356   PMID:24770417   PMID:25416956   PMID:25446650   PMID:25921289   PMID:26186194   PMID:28291845   PMID:28514442   PMID:29395067  
PMID:29467282   PMID:29568061   PMID:29967381   PMID:30948266   PMID:31056398   PMID:31586073   PMID:31617661   PMID:31932471   PMID:32164594   PMID:32296183   PMID:32628020   PMID:32687490  
PMID:32877691   PMID:33001583   PMID:33961781   PMID:34079125   PMID:34133714   PMID:34373451   PMID:34732716   PMID:35013218   PMID:35023579   PMID:35032548   PMID:35384245   PMID:35481630  
PMID:35509820   PMID:35831314   PMID:35914814   PMID:35944360   PMID:36215168   PMID:36604567   PMID:36758106   PMID:37827155  


Genomics

Comparative Map Data
SUPV3L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381069,180,234 - 69,209,093 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1069,180,234 - 69,209,099 (+)EnsemblGRCh38hg38GRCh38
GRCh371070,939,990 - 70,968,849 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361070,609,999 - 70,638,855 (+)NCBINCBI36Build 36hg18NCBI36
Build 341070,609,998 - 70,638,855NCBI
Celera1064,215,826 - 64,244,691 (+)NCBICelera
Cytogenetic Map10q22.1NCBI
HuRef1064,939,986 - 64,968,855 (+)NCBIHuRef
CHM1_11071,221,740 - 71,250,602 (+)NCBICHM1_1
T2T-CHM13v2.01070,048,571 - 70,077,444 (+)NCBIT2T-CHM13v2.0
Supv3l1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391062,265,000 - 62,287,294 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1062,264,988 - 62,285,517 (-)EnsemblGRCm39 Ensembl
GRCm381062,429,221 - 62,451,515 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1062,429,209 - 62,449,738 (-)EnsemblGRCm38mm10GRCm38
MGSCv371061,892,126 - 61,912,441 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361061,824,735 - 61,845,050 (-)NCBIMGSCv36mm8
Celera1063,532,543 - 63,552,858 (-)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1032.4NCBI
Supv3l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82030,921,248 - 30,941,779 (-)NCBIGRCr8
mRatBN7.22030,378,542 - 30,399,076 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2030,378,550 - 30,399,054 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2031,389,464 - 31,409,939 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02030,780,364 - 30,800,843 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02031,516,952 - 31,537,595 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02032,057,530 - 32,080,170 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2032,057,454 - 32,080,088 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02033,844,945 - 33,865,381 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42029,681,431 - 29,714,796 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12029,695,230 - 29,714,461 (-)NCBI
Celera2031,798,626 - 31,819,177 (-)NCBICelera
Cytogenetic Map20q11NCBI
Supv3l1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543721,877,666 - 21,906,362 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543721,880,778 - 21,905,540 (-)NCBIChiLan1.0ChiLan1.0
SUPV3L1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2881,326,442 - 81,355,348 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11081,331,765 - 81,360,670 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01065,647,273 - 65,676,179 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11068,180,665 - 68,209,538 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1068,180,671 - 68,209,538 (+)Ensemblpanpan1.1panPan2
SUPV3L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1420,313,902 - 20,342,375 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl420,313,814 - 20,340,882 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha420,444,181 - 20,471,207 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0420,585,901 - 20,612,932 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl420,585,723 - 20,614,352 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1420,486,562 - 20,513,580 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0420,689,769 - 20,716,783 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0421,033,217 - 21,060,241 (+)NCBIUU_Cfam_GSD_1.0
Supv3l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721360,744,355 - 60,771,693 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365219,237,120 - 9,264,358 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365219,237,081 - 9,264,441 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SUPV3L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1472,245,600 - 72,273,688 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11472,245,526 - 72,272,948 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21478,262,471 - 78,290,268 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SUPV3L1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1962,111,702 - 62,141,092 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl962,111,648 - 62,141,045 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604822,851,896 - 22,881,275 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Supv3l1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247543,474,298 - 3,500,170 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247543,474,235 - 3,500,215 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SUPV3L1
32 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2
pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2
pathogenic
NM_003171.4(SUPV3L1):c.90C>T (p.Pro30=) single nucleotide variant Malignant melanoma [RCV000069012] Chr10:69180381 [GRCh38]
Chr10:70940137 [GRCh37]
Chr10:70610143 [NCBI36]
Chr10:10q22.1
not provided
NM_003171.4(SUPV3L1):c.1776+1925G>A single nucleotide variant Lung cancer [RCV000109320] Chr10:69204968 [GRCh38]
Chr10:70964724 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2
pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3
pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2
pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_003171.5(SUPV3L1):c.1094G>A (p.Arg365Gln) single nucleotide variant not specified [RCV004302408] Chr10:69198442 [GRCh38]
Chr10:70958198 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_003171.5(SUPV3L1):c.1465G>C (p.Glu489Gln) single nucleotide variant not specified [RCV004322358] Chr10:69200446 [GRCh38]
Chr10:70960202 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) copy number loss not specified [RCV002052875] Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3
pathogenic
NC_000010.10:g.(?_67680088)_(71332799_?)del deletion not provided [RCV001956019] Chr10:67680088..71332799 [GRCh37]
Chr10:10q21.3-22.1
uncertain significance
NM_003171.5(SUPV3L1):c.1244A>G (p.Asn415Ser) single nucleotide variant not specified [RCV004320711] Chr10:69199143 [GRCh38]
Chr10:70958899 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.2183C>A (p.Ala728Glu) single nucleotide variant not specified [RCV004215169] Chr10:69208857 [GRCh38]
Chr10:70968613 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.1447G>A (p.Val483Ile) single nucleotide variant not specified [RCV004092657] Chr10:69200428 [GRCh38]
Chr10:70960184 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.170A>G (p.Lys57Arg) single nucleotide variant not specified [RCV004141623] Chr10:69180461 [GRCh38]
Chr10:70940217 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.671C>A (p.Ala224Glu) single nucleotide variant not specified [RCV004225433] Chr10:69189365 [GRCh38]
Chr10:70949121 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.1279A>G (p.Ile427Val) single nucleotide variant not specified [RCV004181053] Chr10:69199178 [GRCh38]
Chr10:70958934 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.217G>A (p.Gly73Ser) single nucleotide variant not specified [RCV004217005] Chr10:69180508 [GRCh38]
Chr10:70940264 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.1034A>G (p.Tyr345Cys) single nucleotide variant not specified [RCV004235625] Chr10:69198382 [GRCh38]
Chr10:70958138 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.127T>G (p.Ser43Ala) single nucleotide variant not specified [RCV004135287] Chr10:69180418 [GRCh38]
Chr10:70940174 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.197C>T (p.Pro66Leu) single nucleotide variant not specified [RCV004200018] Chr10:69180488 [GRCh38]
Chr10:70940244 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.1147C>T (p.Arg383Trp) single nucleotide variant not specified [RCV004096773] Chr10:69198495 [GRCh38]
Chr10:70958251 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.505A>G (p.Ile169Val) single nucleotide variant not specified [RCV004231520] Chr10:69187689 [GRCh38]
Chr10:70947445 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.2132G>A (p.Arg711His) single nucleotide variant not specified [RCV004237002] Chr10:69208806 [GRCh38]
Chr10:70968562 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.1006A>G (p.Thr336Ala) single nucleotide variant not specified [RCV004202555] Chr10:69197066 [GRCh38]
Chr10:70956822 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.733A>G (p.Asn245Asp) single nucleotide variant not specified [RCV004124952] Chr10:69189427 [GRCh38]
Chr10:70949183 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.2006G>A (p.Gly669Asp) single nucleotide variant not specified [RCV004178366] Chr10:69208680 [GRCh38]
Chr10:70968436 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.386A>C (p.Asn129Thr) single nucleotide variant not specified [RCV004163479] Chr10:69186479 [GRCh38]
Chr10:70946235 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.845C>G (p.Thr282Arg) single nucleotide variant not specified [RCV004101321] Chr10:69191758 [GRCh38]
Chr10:70951514 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.538C>T (p.Arg180Cys) single nucleotide variant not specified [RCV004196737] Chr10:69187722 [GRCh38]
Chr10:70947478 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.481T>A (p.Phe161Ile) single nucleotide variant not specified [RCV004258945] Chr10:69187665 [GRCh38]
Chr10:70947421 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.13C>G (p.Arg5Gly) single nucleotide variant not specified [RCV004279336] Chr10:69180304 [GRCh38]
Chr10:70940060 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.2099C>T (p.Ser700Leu) single nucleotide variant not specified [RCV004287404] Chr10:69208773 [GRCh38]
Chr10:70968529 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
NM_003171.5(SUPV3L1):c.1423A>G (p.Ser475Gly) single nucleotide variant not specified [RCV004349335] Chr10:69200404 [GRCh38]
Chr10:70960160 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.1972C>G (p.Leu658Val) single nucleotide variant not specified [RCV004356230] Chr10:69208646 [GRCh38]
Chr10:70968402 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2
pathogenic
NM_003171.5(SUPV3L1):c.99G>A (p.Gly33=) single nucleotide variant not provided [RCV003417457] Chr10:69180390 [GRCh38]
Chr10:70940146 [GRCh37]
Chr10:10q22.1
likely benign
NM_003171.5(SUPV3L1):c.161G>C (p.Gly54Ala) single nucleotide variant not specified [RCV004461138] Chr10:69180452 [GRCh38]
Chr10:70940208 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.86G>A (p.Arg29His) single nucleotide variant not specified [RCV004461153] Chr10:69180377 [GRCh38]
Chr10:70940133 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.16G>T (p.Ala6Ser) single nucleotide variant not specified [RCV004461140] Chr10:69180307 [GRCh38]
Chr10:70940063 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.1792A>G (p.Ser598Gly) single nucleotide variant not specified [RCV004461141] Chr10:69207808 [GRCh38]
Chr10:70967564 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.1825C>T (p.Arg609Cys) single nucleotide variant not specified [RCV004461142] Chr10:69207841 [GRCh38]
Chr10:70967597 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.1838A>G (p.Lys613Arg) single nucleotide variant not specified [RCV004461143] Chr10:69207854 [GRCh38]
Chr10:70967610 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.1897G>A (p.Asp633Asn) single nucleotide variant not specified [RCV004461144] Chr10:69207913 [GRCh38]
Chr10:70967669 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.1931G>A (p.Arg644Gln) single nucleotide variant not specified [RCV004461145] Chr10:69208605 [GRCh38]
Chr10:70968361 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.1952A>G (p.Asp651Gly) single nucleotide variant not specified [RCV004461146] Chr10:69208626 [GRCh38]
Chr10:70968382 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.2015A>G (p.Asn672Ser) single nucleotide variant not specified [RCV004461147] Chr10:69208689 [GRCh38]
Chr10:70968445 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.2255A>G (p.Glu752Gly) single nucleotide variant not specified [RCV004461149] Chr10:69208929 [GRCh38]
Chr10:70968685 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.2355G>A (p.Ser785=) single nucleotide variant not specified [RCV004461150] Chr10:69209029 [GRCh38]
Chr10:70968785 [GRCh37]
Chr10:10q22.1
likely benign
NM_003171.5(SUPV3L1):c.443T>C (p.Ile148Thr) single nucleotide variant not specified [RCV004461151] Chr10:69186536 [GRCh38]
Chr10:70946292 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.451G>A (p.Gly151Ser) single nucleotide variant not specified [RCV004461152] Chr10:69186544 [GRCh38]
Chr10:70946300 [GRCh37]
Chr10:10q22.1
likely benign
NM_003171.5(SUPV3L1):c.976A>G (p.Ile326Val) single nucleotide variant not specified [RCV004461154] Chr10:69197036 [GRCh38]
Chr10:70956792 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_003171.5(SUPV3L1):c.2134G>A (p.Gly712Ser) single nucleotide variant not specified [RCV004461148] Chr10:69208808 [GRCh38]
Chr10:70968564 [GRCh37]
Chr10:10q22.1
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR200Bhsa-miR-200b-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:720
Count of miRNA genes:529
Interacting mature miRNAs:593
Transcripts:ENST00000359655, ENST00000422378, ENST00000471069, ENST00000478227, ENST00000483572, ENST00000486661, ENST00000497254
Prediction methods:Microtar, 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.

Markers in Region
D10S1647  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371070,944,314 - 70,944,517UniSTSGRCh37
Build 361070,614,320 - 70,614,523RGDNCBI36
Celera1064,220,148 - 64,220,351RGD
Cytogenetic Map10q22.1UniSTS
HuRef1064,944,308 - 64,944,513UniSTS
Marshfield Genetic Map1088.41RGD
Marshfield Genetic Map1088.41UniSTS
Genethon Genetic Map1091.4UniSTS
deCODE Assembly Map1085.07UniSTS
Whitehead-YAC Contig Map10 UniSTS
WI-13637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371070,968,695 - 70,968,795UniSTSGRCh37
Build 361070,638,701 - 70,638,801RGDNCBI36
Celera1064,244,537 - 64,244,637RGD
Cytogenetic Map10q22.1UniSTS
HuRef1064,968,701 - 64,968,801UniSTS
GeneMap99-GB4 RH Map10371.44UniSTS
Whitehead-RH Map10440.9UniSTS
SUPV3L1_8661  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371070,968,404 - 70,968,890UniSTSGRCh37
Build 361070,638,410 - 70,638,896RGDNCBI36
Celera1064,244,246 - 64,244,732RGD
HuRef1064,968,410 - 64,968,896UniSTS


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
High
Medium 2367 2018 1575 470 1286 324 4332 2011 2988 334 1435 1580 160 1195 2769 3
Low 67 970 148 152 663 140 23 184 733 84 15 30 12 9 19 1
Below cutoff 1 1 2 1 1 6 1 4 1 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001301683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF042169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL596223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM675613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC398467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000359655   ⟹   ENSP00000352678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1069,180,234 - 69,209,093 (+)Ensembl
RefSeq Acc Id: ENST00000422378   ⟹   ENSP00000409072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1069,180,288 - 69,200,353 (+)Ensembl
RefSeq Acc Id: ENST00000471069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1069,180,250 - 69,193,263 (+)Ensembl
RefSeq Acc Id: ENST00000478227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1069,187,433 - 69,197,080 (+)Ensembl
RefSeq Acc Id: ENST00000483572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1069,180,281 - 69,195,213 (+)Ensembl
RefSeq Acc Id: ENST00000486661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1069,187,713 - 69,195,380 (+)Ensembl
RefSeq Acc Id: ENST00000497254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1069,207,776 - 69,209,099 (+)Ensembl
RefSeq Acc Id: NM_001301683   ⟹   NP_001288612
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381069,180,234 - 69,209,093 (+)NCBI
CHM1_11071,221,707 - 71,250,607 (+)NCBI
T2T-CHM13v2.01070,048,571 - 70,077,444 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323584   ⟹   NP_001310513
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381069,180,234 - 69,209,093 (+)NCBI
CHM1_11071,221,707 - 71,250,607 (+)NCBI
T2T-CHM13v2.01070,048,571 - 70,077,444 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323585   ⟹   NP_001310514
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381069,180,234 - 69,209,093 (+)NCBI
CHM1_11071,221,707 - 71,250,607 (+)NCBI
T2T-CHM13v2.01070,048,571 - 70,077,444 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323586   ⟹   NP_001310515
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381069,180,234 - 69,209,093 (+)NCBI
CHM1_11071,221,707 - 71,250,607 (+)NCBI
T2T-CHM13v2.01070,048,571 - 70,077,444 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323587   ⟹   NP_001310516
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381069,180,234 - 69,209,093 (+)NCBI
CHM1_11071,221,707 - 71,250,607 (+)NCBI
T2T-CHM13v2.01070,048,571 - 70,077,444 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323588   ⟹   NP_001310517
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381069,180,234 - 69,209,093 (+)NCBI
CHM1_11071,221,707 - 71,250,607 (+)NCBI
T2T-CHM13v2.01070,048,571 - 70,077,444 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003171   ⟹   NP_003162
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381069,180,234 - 69,209,093 (+)NCBI
GRCh371070,939,993 - 70,968,854 (+)NCBI
Build 361070,609,999 - 70,638,855 (+)NCBI Archive
HuRef1064,939,986 - 64,968,855 (+)ENTREZGENE
CHM1_11071,221,707 - 71,250,607 (+)NCBI
T2T-CHM13v2.01070,048,571 - 70,077,444 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136626
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381069,180,234 - 69,209,093 (+)NCBI
CHM1_11071,221,707 - 71,250,607 (+)NCBI
T2T-CHM13v2.01070,048,571 - 70,077,444 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136627
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381069,180,234 - 69,209,093 (+)NCBI
CHM1_11071,221,707 - 71,250,607 (+)NCBI
T2T-CHM13v2.01070,048,571 - 70,077,444 (+)NCBI
Sequence:
RefSeq Acc Id: NP_003162   ⟸   NM_003171
- Peptide Label: isoform 1
- UniProtKB: A8K301 (UniProtKB/Swiss-Prot),   O43630 (UniProtKB/Swiss-Prot),   Q8IYB8 (UniProtKB/Swiss-Prot),   B7Z611 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001288612   ⟸   NM_001301683
- Peptide Label: isoform 2
- UniProtKB: B7Z611 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310514   ⟸   NM_001323585
- Peptide Label: isoform 3
- UniProtKB: B7Z611 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310513   ⟸   NM_001323584
- Peptide Label: isoform 2
- UniProtKB: B7Z611 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310517   ⟸   NM_001323588
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001310515   ⟸   NM_001323586
- Peptide Label: isoform 3
- UniProtKB: B7Z611 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310516   ⟸   NM_001323587
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: ENSP00000352678   ⟸   ENST00000359655
RefSeq Acc Id: ENSP00000409072   ⟸   ENST00000422378
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IYB8-F1-model_v2 AlphaFold Q8IYB8 1-786 view protein structure

Promoters
RGD ID:7217727
Promoter ID:EPDNEW_H14609
Type:initiation region
Name:SUPV3L1_1
Description:Suv3 like RNA helicase
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
GRCh381069,180,267 - 69,180,327EPDNEW
RGD ID:6788284
Promoter ID:HG_KWN:9851
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:ENST00000395093,   OTTHUMT00000048396,   OTTHUMT00000048397,   OTTHUMT00000048398,   OTTHUMT00000048400
Position:
Human AssemblyChrPosition (strand)Source
Build 361070,609,556 - 70,610,297 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11471 AgrOrtholog
COSMIC SUPV3L1 COSMIC
Ensembl Genes ENSG00000156502 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000359655 ENTREZGENE
  ENST00000359655.9 UniProtKB/Swiss-Prot
  ENST00000422378.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1740.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.272.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.58.1080 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156502 GTEx
HGNC ID HGNC:11471 ENTREZGENE
Human Proteome Map SUPV3L1 Human Proteome Map
InterPro Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUV3_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Suv3_C_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Suv3_DEXQc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Suv3_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6832 UniProtKB/Swiss-Prot
NCBI Gene 6832 ENTREZGENE
OMIM 605122 OMIM
PANTHER ATP-DEPENDENT RNA AND DNA HELICASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-DEPENDENT RNA HELICASE SUPV3L1, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUV3_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Suv3_C_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Suv3_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36257 PharmGKB
PROSITE HELICASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HELICc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K301 ENTREZGENE
  B1AR60_HUMAN UniProtKB/TrEMBL
  B7Z611 ENTREZGENE, UniProtKB/TrEMBL
  O43630 ENTREZGENE
  Q8IYB8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K301 UniProtKB/Swiss-Prot
  O43630 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-12 SUPV3L1  Suv3 like RNA helicase    SUV3-like helicase  Symbol and/or name change 5135510 APPROVED
2015-09-29 SUPV3L1  SUV3-like helicase    suppressor of var1, 3-like 1 (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED