RNF214 (ring finger protein 214) - Rat Genome Database

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Gene: RNF214 (ring finger protein 214) Homo sapiens
Analyze
Symbol: RNF214
Name: ring finger protein 214
RGD ID: 1604189
HGNC Page HGNC:25335
Description: Predicted to enable ubiquitin-protein transferase activity.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp547C195
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
GRCh3811117,232,671 - 117,286,454 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11117,232,625 - 117,286,454 (+)EnsemblGRCh38hg38GRCh38
GRCh3711117,103,387 - 117,157,170 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611116,608,614 - 116,661,614 (+)NCBINCBI36Build 36hg18NCBI36
Celera11114,261,063 - 114,314,064 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11113,036,243 - 113,090,545 (+)NCBIHuRef
CHM1_111116,988,175 - 117,041,504 (+)NCBICHM1_1
T2T-CHM13v2.011117,247,969 - 117,303,259 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

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:12477932   PMID:15146197   PMID:15489334   PMID:18854154   PMID:21779381   PMID:21873635   PMID:22939629   PMID:25416956   PMID:25921289   PMID:26186194   PMID:26496610   PMID:26777405  
PMID:27173435   PMID:28514442   PMID:28712289   PMID:29395067   PMID:29509190   PMID:30021884   PMID:30995489   PMID:32296183   PMID:32694731   PMID:33658012   PMID:33961781   PMID:34079125  
PMID:35140242   PMID:35271311   PMID:35439318   PMID:35563538   PMID:35831314   PMID:36114006   PMID:36215168   PMID:36232890  


Genomics

Comparative Map Data
RNF214
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811117,232,671 - 117,286,454 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11117,232,625 - 117,286,454 (+)EnsemblGRCh38hg38GRCh38
GRCh3711117,103,387 - 117,157,170 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611116,608,614 - 116,661,614 (+)NCBINCBI36Build 36hg18NCBI36
Celera11114,261,063 - 114,314,064 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11113,036,243 - 113,090,545 (+)NCBIHuRef
CHM1_111116,988,175 - 117,041,504 (+)NCBICHM1_1
T2T-CHM13v2.011117,247,969 - 117,303,259 (+)NCBIT2T-CHM13v2.0
Rnf214
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39945,768,067 - 45,818,209 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl945,774,723 - 45,818,209 (-)EnsemblGRCm39 Ensembl
GRCm38945,856,769 - 45,906,911 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl945,863,425 - 45,906,911 (-)EnsemblGRCm38mm10GRCm38
MGSCv37945,671,774 - 45,714,960 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36945,614,686 - 45,657,872 (-)NCBIMGSCv36mm8
Celera943,146,444 - 43,189,893 (-)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map925.26NCBI
Rnf214
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8855,057,434 - 55,098,753 (-)NCBIGRCr8
mRatBN7.2846,166,269 - 46,202,048 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl846,166,598 - 46,201,576 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0850,164,116 - 50,199,988 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl850,166,505 - 50,199,978 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0848,788,893 - 48,824,283 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4848,843,110 - 48,878,805 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1848,853,341 - 48,888,096 (-)NCBI
Celera845,748,936 - 45,784,584 (-)NCBICelera
Cytogenetic Map8q22NCBI
Rnf214
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541218,555,887 - 18,593,815 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541218,555,881 - 18,594,341 (+)NCBIChiLan1.0ChiLan1.0
RNF214
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29117,932,293 - 117,986,202 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111119,037,886 - 119,093,591 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011112,066,666 - 112,121,051 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111116,002,040 - 116,054,289 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11116,002,034 - 116,054,282 (+)Ensemblpanpan1.1panPan2
RNF214
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1516,319,460 - 16,364,301 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl516,319,698 - 16,364,493 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha516,370,527 - 16,418,221 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0516,262,829 - 16,310,092 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl516,264,154 - 16,310,019 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1516,400,522 - 16,448,160 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0516,303,460 - 16,350,880 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0516,345,763 - 16,393,033 (-)NCBIUU_Cfam_GSD_1.0
Rnf214
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494799,557,717 - 99,591,555 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365422,480,127 - 2,512,161 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365422,479,109 - 2,512,964 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RNF214
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl944,597,007 - 44,642,109 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1944,596,980 - 44,640,374 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2949,671,360 - 49,714,348 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RNF214
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11108,603,019 - 108,658,281 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1108,603,799 - 108,657,951 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604317,395,913 - 17,451,216 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rnf214
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478412,687,262 - 12,723,119 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478412,685,551 - 12,723,125 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RNF214
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3 copy number gain See cases [RCV000053640] Chr11:116436425..118046231 [GRCh38]
Chr11:116307142..117916946 [GRCh37]
Chr11:115812352..117422156 [NCBI36]
Chr11:11q23.3		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3 copy number gain See cases [RCV000137585] Chr11:115647670..117581883 [GRCh38]
Chr11:115518388..117452598 [GRCh37]
Chr11:115023598..116957808 [NCBI36]
Chr11:11q23.3		 uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_207343.4(RNF214):c.993G>C (p.Lys331Asn) single nucleotide variant not specified [RCV004306783] Chr11:117279941 [GRCh38]
Chr11:117150657 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NC_000011.9:g.(?_116691583)_(121500272_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV003119252]|Immunodeficiency 18 [RCV003109226]|Immunodeficiency 19 [RCV003109224]|Inflammatory bowel disease 28 [RCV003109225]|Isolated microphthalmia 5 [RCV003119251]|RASopathy [RCV003119250] Chr11:116691583..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3		 uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication not provided [RCV003107886] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NC_000011.9:g.(?_116660844)_(117870356_?)del deletion Nephronophthisis 15 [RCV003119459]|not provided [RCV003109683] Chr11:116660844..117870356 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_207343.4(RNF214):c.364A>G (p.Thr122Ala) single nucleotide variant not specified [RCV004112530] Chr11:117238857 [GRCh38]
Chr11:117109573 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.741G>C (p.Gln247His) single nucleotide variant not specified [RCV004193910] Chr11:117244507 [GRCh38]
Chr11:117115223 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.340A>G (p.Ser114Gly) single nucleotide variant not specified [RCV004191318] Chr11:117238833 [GRCh38]
Chr11:117109549 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.427C>G (p.Gln143Glu) single nucleotide variant not specified [RCV004201089] Chr11:117238920 [GRCh38]
Chr11:117109636 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.1693C>T (p.Arg565Trp) single nucleotide variant not specified [RCV004143128] Chr11:117282251 [GRCh38]
Chr11:117152967 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.878T>C (p.Ile293Thr) single nucleotide variant not specified [RCV004242341] Chr11:117246867 [GRCh38]
Chr11:117117583 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.1385G>A (p.Arg462Gln) single nucleotide variant not specified [RCV004078547] Chr11:117281943 [GRCh38]
Chr11:117152659 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.1585G>A (p.Ala529Thr) single nucleotide variant not specified [RCV004148628] Chr11:117282143 [GRCh38]
Chr11:117152859 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.182A>G (p.Asn61Ser) single nucleotide variant not specified [RCV004275362] Chr11:117238675 [GRCh38]
Chr11:117109391 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.661G>T (p.Asp221Tyr) single nucleotide variant not specified [RCV004278375] Chr11:117239843 [GRCh38]
Chr11:117110559 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.659A>G (p.Gln220Arg) single nucleotide variant not specified [RCV004357393] Chr11:117239841 [GRCh38]
Chr11:117110557 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.443A>G (p.Asn148Ser) single nucleotide variant not specified [RCV004357643] Chr11:117238936 [GRCh38]
Chr11:117109652 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
NM_207343.4(RNF214):c.2022G>A (p.Ala674=) single nucleotide variant not provided [RCV003398154] Chr11:117283186 [GRCh38]
Chr11:117153902 [GRCh37]
Chr11:11q23.3		 likely benign
NM_207343.4(RNF214):c.1227G>T (p.Lys409Asn) single nucleotide variant not specified [RCV004446619] Chr11:117281395 [GRCh38]
Chr11:117152111 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.122C>T (p.Ala41Val) single nucleotide variant not specified [RCV004446620] Chr11:117238615 [GRCh38]
Chr11:117109331 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.1444C>T (p.Arg482Cys) single nucleotide variant not specified [RCV004446621] Chr11:117282002 [GRCh38]
Chr11:117152718 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.1520A>G (p.His507Arg) single nucleotide variant not specified [RCV004446622] Chr11:117282078 [GRCh38]
Chr11:117152794 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.1640C>G (p.Pro547Arg) single nucleotide variant not specified [RCV004446623] Chr11:117282198 [GRCh38]
Chr11:117152914 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.35A>G (p.Asn12Ser) single nucleotide variant not specified [RCV004446624] Chr11:117234307 [GRCh38]
Chr11:117105023 [GRCh37]
Chr11:11q23.3		 likely benign
NM_207343.4(RNF214):c.554G>A (p.Arg185Gln) single nucleotide variant not specified [RCV004446626] Chr11:117239047 [GRCh38]
Chr11:117109763 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.616C>A (p.Gln206Lys) single nucleotide variant not specified [RCV004446628] Chr11:117239109 [GRCh38]
Chr11:117109825 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.725A>G (p.Glu242Gly) single nucleotide variant not specified [RCV004446629] Chr11:117244491 [GRCh38]
Chr11:117115207 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.79T>C (p.Ser27Pro) single nucleotide variant not specified [RCV004446630] Chr11:117234351 [GRCh38]
Chr11:117105067 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3 copy number gain not provided [RCV004442759] Chr11:116683755..134937416 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_207343.4(RNF214):c.41C>G (p.Pro14Arg) single nucleotide variant not specified [RCV004446625] Chr11:117234313 [GRCh38]
Chr11:117105029 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.865A>G (p.Thr289Ala) single nucleotide variant not specified [RCV004446631] Chr11:117246854 [GRCh38]
Chr11:117117570 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.1210G>A (p.Val404Ile) single nucleotide variant not specified [RCV004446618] Chr11:117281378 [GRCh38]
Chr11:117152094 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_207343.4(RNF214):c.59C>A (p.Ser20Tyr) single nucleotide variant not specified [RCV004446627] Chr11:117234331 [GRCh38]
Chr11:117105047 [GRCh37]
Chr11:11q23.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1607
Count of miRNA genes:674
Interacting mature miRNAs:791
Transcripts:ENST00000300650, ENST00000524917, ENST00000529869, ENST00000530849, ENST00000531287, ENST00000531452, ENST00000534428, ENST00000534709
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
A009Y15  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,156,433 - 117,156,596UniSTSGRCh37
Build 3611116,661,643 - 116,661,806RGDNCBI36
Celera11114,314,093 - 114,314,256RGD
Cytogenetic Map11q23.2-q23.3UniSTS
Cytogenetic Map11q23.3UniSTS
HuRef11113,090,574 - 113,090,737UniSTS
GeneMap99-GB4 RH Map11375.44UniSTS
D11S2277E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,156,494 - 117,156,602UniSTSGRCh37
Build 3611116,661,704 - 116,661,812RGDNCBI36
Celera11114,314,154 - 114,314,262RGD
Cytogenetic Map11q23.2-q23.3UniSTS
Cytogenetic Map11q23.3UniSTS
HuRef11113,090,635 - 113,090,743UniSTS
SHGC-132133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,116,931 - 117,117,207UniSTSGRCh37
Build 3611116,622,141 - 116,622,417RGDNCBI36
Celera11114,274,590 - 114,274,866RGD
Cytogenetic Map11q23.3UniSTS
HuRef11113,049,990 - 113,050,266UniSTS
TNG Radiation Hybrid Map1153887.0UniSTS
RH12629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,156,553 - 117,156,679UniSTSGRCh37
Build 3611116,661,763 - 116,661,889RGDNCBI36
Celera11114,314,213 - 114,314,339RGD
Cytogenetic Map11q23.2-q23.3UniSTS
Cytogenetic Map11q23.3UniSTS
HuRef11113,090,694 - 113,090,820UniSTS
GeneMap99-GB4 RH Map11375.44UniSTS
D11S2294E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,156,497 - 117,156,646UniSTSGRCh37
Build 3611116,661,707 - 116,661,856RGDNCBI36
Celera11114,314,157 - 114,314,306RGD
Cytogenetic Map11q23.2-q23.3UniSTS
Cytogenetic Map11q23.3UniSTS
HuRef11113,090,638 - 113,090,787UniSTS
GeneMap99-GB4 RH Map11375.33UniSTS
G20259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,156,462 - 117,156,596UniSTSGRCh37
Build 3611116,661,672 - 116,661,806RGDNCBI36
Celera11114,314,122 - 114,314,256RGD
Cytogenetic Map11q23.2-q23.3UniSTS
Cytogenetic Map11q23.3UniSTS
HuRef11113,090,603 - 113,090,737UniSTS
A005A12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,156,462 - 117,156,596UniSTSGRCh37
Build 3611116,661,672 - 116,661,806RGDNCBI36
Celera11114,314,122 - 114,314,256RGD
Cytogenetic Map11q23.2-q23.3UniSTS
Cytogenetic Map11q23.3UniSTS
HuRef11113,090,603 - 113,090,737UniSTS
GeneMap99-GB4 RH Map11375.39UniSTS
D11S4635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,117,167 - 117,117,259UniSTSGRCh37
Build 3611116,622,377 - 116,622,469RGDNCBI36
Celera11114,274,826 - 114,274,918RGD
Cytogenetic Map11q23.3UniSTS
HuRef11113,050,226 - 113,050,318UniSTS
Stanford-G3 RH Map115206.0UniSTS
G20524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,156,170 - 117,156,360UniSTSGRCh37
Build 3611116,661,380 - 116,661,570RGDNCBI36
Celera11114,313,830 - 114,314,020RGD
Cytogenetic Map11q23.2-q23.3UniSTS
Cytogenetic Map11q23.3UniSTS
HuRef11113,090,311 - 113,090,501UniSTS
A005U47  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,156,170 - 117,156,360UniSTSGRCh37
Build 3611116,661,380 - 116,661,570RGDNCBI36
Celera11114,313,830 - 114,314,020RGD
Cytogenetic Map11q23.2-q23.3UniSTS
Cytogenetic Map11q23.3UniSTS
HuRef11113,090,311 - 113,090,501UniSTS
GeneMap99-GB4 RH Map11375.39UniSTS
G32977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,156,433 - 117,156,596UniSTSGRCh37
Celera11114,314,093 - 114,314,256UniSTS
Cytogenetic Map11q23.2-q23.3UniSTS
Cytogenetic Map11q23.3UniSTS
HuRef11113,090,574 - 113,090,737UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 2162 1495 1303 235 1167 92 3990 1435 1889 201 1355 1486 153 1162 2496 2
Low 270 1489 420 387 781 372 365 758 1819 217 94 122 17 42 292 2
Below cutoff 2 2 6 5 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001077239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK298923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX111206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN395747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB457549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC423629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000300650   ⟹   ENSP00000300650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,232,671 - 117,286,454 (+)Ensembl
RefSeq Acc Id: ENST00000524917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,281,428 - 117,283,204 (+)Ensembl
RefSeq Acc Id: ENST00000529869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,232,703 - 117,246,840 (+)Ensembl
RefSeq Acc Id: ENST00000530849   ⟹   ENSP00000432903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,234,263 - 117,286,445 (+)Ensembl
RefSeq Acc Id: ENST00000531287   ⟹   ENSP00000435361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,232,736 - 117,285,164 (+)Ensembl
RefSeq Acc Id: ENST00000531452   ⟹   ENSP00000431643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,232,736 - 117,285,688 (+)Ensembl
RefSeq Acc Id: ENST00000534428   ⟹   ENSP00000434186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,232,625 - 117,238,933 (+)Ensembl
RefSeq Acc Id: ENST00000534709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,281,788 - 117,285,246 (+)Ensembl
RefSeq Acc Id: NM_001077239   ⟹   NP_001070707
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,232,736 - 117,286,454 (+)NCBI
GRCh3711117,103,341 - 117,156,404 (+)NCBI
Build 3611116,608,662 - 116,661,614 (+)NCBI Archive
Celera11114,261,063 - 114,314,064 (+)RGD
HuRef11113,036,243 - 113,090,545 (+)NCBI
CHM1_111116,988,286 - 117,041,504 (+)NCBI
T2T-CHM13v2.011117,248,034 - 117,303,259 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278249   ⟹   NP_001265178
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,232,736 - 117,286,454 (+)NCBI
GRCh3711117,103,341 - 117,156,404 (+)NCBI
HuRef11113,036,243 - 113,090,545 (+)NCBI
CHM1_111116,988,286 - 117,041,504 (+)NCBI
T2T-CHM13v2.011117,248,034 - 117,303,259 (+)NCBI
Sequence:
RefSeq Acc Id: NM_207343   ⟹   NP_997226
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,232,671 - 117,286,454 (+)NCBI
Build 3611116,608,614 - 116,661,614 (+)NCBI Archive
Celera11114,261,063 - 114,314,064 (+)RGD
HuRef11113,036,243 - 113,090,545 (+)NCBI
CHM1_111116,988,175 - 117,041,504 (+)NCBI
T2T-CHM13v2.011117,247,969 - 117,303,259 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_997226   ⟸   NM_207343
- Peptide Label: isoform 1
- UniProtKB: B2RUW0 (UniProtKB/Swiss-Prot),   B4DTD1 (UniProtKB/Swiss-Prot),   Q8ND24 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001070707   ⟸   NM_001077239
- Peptide Label: isoform 1
- UniProtKB: B2RUW0 (UniProtKB/Swiss-Prot),   B4DTD1 (UniProtKB/Swiss-Prot),   Q8ND24 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265178   ⟸   NM_001278249
- Peptide Label: isoform 2
- UniProtKB: E9PN76 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000432903   ⟸   ENST00000530849
RefSeq Acc Id: ENSP00000431643   ⟸   ENST00000531452
RefSeq Acc Id: ENSP00000435361   ⟸   ENST00000531287
RefSeq Acc Id: ENSP00000434186   ⟸   ENST00000534428
RefSeq Acc Id: ENSP00000300650   ⟸   ENST00000300650
Protein Domains
RING-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8ND24-F1-model_v2 AlphaFold Q8ND24 1-703 view protein structure

Promoters
RGD ID:6789327
Promoter ID:HG_KWN:14279
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001077239,   NM_207343
Position:
Human AssemblyChrPosition (strand)Source
Build 3611116,607,851 - 116,608,351 (+)MPROMDB
RGD ID:6810125
Promoter ID:HG_ACW:14426
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:RNF214.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3611116,608,891 - 116,609,391 (+)MPROMDB
RGD ID:7222241
Promoter ID:EPDNEW_H16866
Type:initiation region
Name:RNF214_1
Description:ring finger protein 214
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16867  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,232,695 - 117,232,755EPDNEW
RGD ID:7222245
Promoter ID:EPDNEW_H16867
Type:initiation region
Name:RNF214_2
Description:ring finger protein 214
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16866  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,281,727 - 117,281,787EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25335 AgrOrtholog
COSMIC RNF214 COSMIC
Ensembl Genes ENSG00000167257 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000300650 ENTREZGENE
  ENST00000300650.9 UniProtKB/Swiss-Prot
  ENST00000530849.1 UniProtKB/TrEMBL
  ENST00000531287 ENTREZGENE
  ENST00000531287.5 UniProtKB/Swiss-Prot
  ENST00000531452 ENTREZGENE
  ENST00000531452.5 UniProtKB/Swiss-Prot
  ENST00000534428.5 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167257 GTEx
HGNC ID HGNC:25335 ENTREZGENE
Human Proteome Map RNF214 Human Proteome Map
InterPro Znf_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:257160 UniProtKB/Swiss-Prot
NCBI Gene 257160 ENTREZGENE
PANTHER RING FINGER PROTEIN 214 UniProtKB/Swiss-Prot
  RING FINGER PROTEIN 214 UniProtKB/Swiss-Prot
  RING FINGER PROTEIN 214 UniProtKB/TrEMBL
  RING FINGER PROTEIN 214 UniProtKB/TrEMBL
PharmGKB PA162401772 PharmGKB
PROSITE ZF_RING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RUW0 ENTREZGENE
  B4DTD1 ENTREZGENE
  E9PN76 ENTREZGENE, UniProtKB/TrEMBL
  E9PRE9_HUMAN UniProtKB/TrEMBL
  Q8ND24 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RUW0 UniProtKB/Swiss-Prot
  B4DTD1 UniProtKB/Swiss-Prot