RNF126 (ring finger protein 126) - Rat Genome Database

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Gene: RNF126 (ring finger protein 126) Homo sapiens
Analyze
Symbol: RNF126
Name: ring finger protein 126
RGD ID: 1314381
HGNC Page HGNC:21151
Description: Enables ubiquitin protein ligase activity. Involved in several processes, including positive regulation of double-strand break repair via homologous recombination; protein ubiquitination; and ubiquitin-dependent protein catabolic process. Located in cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: E3 ubiquitin-protein ligase RNF126; FLJ20552; MGC1022; MGC14317
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: RNF126P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3819647,526 - 663,214 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl19647,526 - 663,233 (-)EnsemblGRCh38hg38GRCh38
GRCh3719647,526 - 663,214 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3619598,526 - 614,227 (-)NCBINCBI36Build 36hg18NCBI36
Celera19154,322 - 170,071 (+)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef19417,361 - 433,064 (-)NCBIHuRef
CHM1_119647,187 - 662,920 (-)NCBICHM1_1
T2T-CHM13v2.019601,753 - 617,249 (-)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
cytoplasm  (IBA,IDA,IEA)
cytosol  (IDA)
nucleoplasm  (IDA)
nucleus  (IDA,IEA)

Molecular Function

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:8744354   PMID:12477932   PMID:14667819   PMID:14702039   PMID:15489334   PMID:16189514   PMID:16196087   PMID:18775313   PMID:19549727   PMID:21873635   PMID:21900206   PMID:22190034  
PMID:22493164   PMID:22992278   PMID:23026136   PMID:23105109   PMID:23246001   PMID:23277564   PMID:23349634   PMID:23383273   PMID:23418353   PMID:24275455   PMID:24811749   PMID:24981174  
PMID:25260751   PMID:25416956   PMID:26186194   PMID:26234677   PMID:26496610   PMID:26508657   PMID:26972000   PMID:27173435   PMID:27193484   PMID:27227488   PMID:27895153   PMID:28228265  
PMID:28443643   PMID:28514442   PMID:29167269   PMID:29326282   PMID:29643511   PMID:29685906   PMID:30442662   PMID:30455355   PMID:30529286   PMID:31073040   PMID:31091453   PMID:31371451  
PMID:31515488   PMID:31540324   PMID:31904842   PMID:32131492   PMID:32132033   PMID:32147403   PMID:32254065   PMID:32296183   PMID:32416067   PMID:32645369   PMID:32723828   PMID:32814053  
PMID:33149608   PMID:33607208   PMID:33664240   PMID:33961781   PMID:34388456   PMID:34533052   PMID:34563636   PMID:34643674   PMID:35216969   PMID:35271311   PMID:35542047   PMID:35563538  
PMID:35676246   PMID:36068398   PMID:36180527   PMID:36539893   PMID:36563124   PMID:37167062   PMID:37314216   PMID:38113892   PMID:38803224  


Genomics

Comparative Map Data
RNF126
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3819647,526 - 663,214 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl19647,526 - 663,233 (-)EnsemblGRCh38hg38GRCh38
GRCh3719647,526 - 663,214 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3619598,526 - 614,227 (-)NCBINCBI36Build 36hg18NCBI36
Celera19154,322 - 170,071 (+)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef19417,361 - 433,064 (-)NCBIHuRef
CHM1_119647,187 - 662,920 (-)NCBICHM1_1
T2T-CHM13v2.019601,753 - 617,249 (-)NCBIT2T-CHM13v2.0
Rnf126
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391079,594,349 - 79,607,282 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1079,594,349 - 79,602,786 (-)EnsemblGRCm39 Ensembl
GRCm381079,758,515 - 79,771,448 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1079,758,515 - 79,766,952 (-)EnsemblGRCm38mm10GRCm38
MGSCv371079,221,260 - 79,229,686 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361079,161,668 - 79,170,053 (-)NCBIMGSCv36mm8
Celera1080,773,108 - 80,791,932 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Rnf126
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8710,590,013 - 10,597,585 (+)NCBIGRCr8
mRatBN7.279,939,359 - 9,946,963 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl79,938,229 - 9,946,738 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx712,820,464 - 12,827,752 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0714,698,545 - 14,705,833 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0712,557,874 - 12,565,162 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0712,820,796 - 12,828,325 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl712,820,840 - 12,828,334 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0712,991,016 - 12,998,529 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4711,454,326 - 11,461,614 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1711,454,379 - 11,461,302 (+)NCBI
Celera78,112,972 - 8,120,260 (+)NCBICelera
Cytogenetic Map7q11NCBI
Rnf126
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554957,095,336 - 7,102,757 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554957,083,952 - 7,098,442 (+)NCBIChiLan1.0ChiLan1.0
RNF126
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2204,969,822 - 4,988,575 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1194,211,553 - 4,226,693 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v019491,699 - 494,175 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1 Ensembl19614,236 - 618,659 (-)Ensemblpanpan1.1panPan2
RNF126
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12057,890,333 - 57,899,364 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2057,891,413 - 57,898,863 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2057,694,175 - 57,701,870 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02058,634,727 - 58,642,433 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2058,634,192 - 58,642,215 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12057,688,864 - 57,696,560 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02058,168,322 - 58,176,002 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02058,371,682 - 58,379,389 (+)NCBIUU_Cfam_GSD_1.0
LOC101961559
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118217,572,863 - 217,603,060 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936588229,508 - 237,969 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0 EnsemblNW_004936588255,639 - 260,291 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936588231,723 - 237,969 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RNF126
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl277,673,353 - 77,683,311 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1277,673,302 - 77,683,312 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
RNF126
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.16392,717 - 409,139 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660818,561,985 - 8,593,924 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rnf126
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248287,856,470 - 7,869,926 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248287,856,822 - 7,865,644 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RNF126
38 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3(chr19:259395-819679)x3 copy number gain See cases [RCV000051144] Chr19:259395..819679 [GRCh38]
Chr19:259395..819679 [GRCh37]
Chr19:210395..770679 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 copy number gain See cases [RCV000051044] Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:591812-1358152)x3 copy number gain See cases [RCV000052877] Chr19:591812..1358152 [GRCh38]
Chr19:591812..1358151 [GRCh37]
Chr19:542812..1309151 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 copy number gain See cases [RCV000052875] Chr19:259395..1952650 [GRCh38]
Chr19:259395..1952649 [GRCh37]
Chr19:210395..1903649 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259195-1351363)x1 copy number loss See cases [RCV000053910] Chr19:259195..1351363 [GRCh38]
Chr19:259195..1351362 [GRCh37]
Chr19:210195..1302362 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:266117-1076399)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|See cases [RCV000053911] Chr19:266117..1076399 [GRCh38]
Chr19:266117..1076398 [GRCh37]
Chr19:217117..1027398 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3		 likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 copy number gain See cases [RCV000135433] Chr19:259395..2068507 [GRCh38]
Chr19:259395..2068506 [GRCh37]
Chr19:210395..2019506 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 copy number gain See cases [RCV000141358] Chr19:275925..1892276 [GRCh38]
Chr19:275925..1892275 [GRCh37]
Chr19:226925..1843275 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260912-1163934)x3 copy number gain See cases [RCV000239425] Chr19:260912..1163934 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 copy number gain See cases [RCV000240507] Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260911-2256387)x3 copy number gain See cases [RCV002285065] Chr19:260911..2256387 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3 copy number gain See cases [RCV000511452] Chr19:260911..1965786 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:415092-715725)x3 copy number gain See cases [RCV000511102] Chr19:415092..715725 [GRCh37]
Chr19:19p13.3		 likely benign
NM_194460.3(RNF126):c.20A>G (p.His7Arg) single nucleotide variant not specified [RCV004314949] Chr19:663102 [GRCh38]
Chr19:663102 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_194460.3(RNF126):c.607C>T (p.Pro203Ser) single nucleotide variant not specified [RCV004315509] Chr19:648945 [GRCh38]
Chr19:648945 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:266117-1094614)x3 copy number gain not provided [RCV000513059] Chr19:266117..1094614 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:572671-663929)x3 copy number gain not provided [RCV000739939] Chr19:572671..663929 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:572671-757752)x3 copy number gain not provided [RCV000739940] Chr19:572671..757752 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:578208-675106)x3 copy number gain not provided [RCV000739942] Chr19:578208..675106 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:578668-675106)x3 copy number gain not provided [RCV000739943] Chr19:578668..675106 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3(chr19:423160-1429367)x3 copy number gain not provided [RCV000752449] Chr19:423160..1429367 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001032652] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_589946)_(2151333_?)dup duplication Cyclical neutropenia [RCV003107569] Chr19:589946..2151333 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.757G>A (p.Asp253Asn) single nucleotide variant not provided [RCV000889251] Chr19:648401 [GRCh38]
Chr19:648401 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:414714-713630)x3 copy number gain not provided [RCV001259376] Chr19:414714..713630 [GRCh37]
Chr19:19p13.3		 likely benign
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001307813] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(4818389_?)dup duplication not provided [RCV003105391] Chr19:589946..4818389 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(1650247_?)dup duplication not provided [RCV001940167] Chr19:589946..1650247 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(1106571_?)del deletion Cyclical neutropenia [RCV001916881]|not provided [RCV001923747] Chr19:589946..1106571 [GRCh37]
Chr19:19p13.3		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1319319) copy number loss Peutz-Jeghers syndrome [RCV002280635] Chr19:260911..1319319 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_589946)_(5696788_?)dup duplication not provided [RCV003113597] Chr19:589946..5696788 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.863T>A (p.Val288Glu) single nucleotide variant not specified [RCV004194458] Chr19:648201 [GRCh38]
Chr19:648201 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.231G>C (p.Gln77His) single nucleotide variant not specified [RCV004241234] Chr19:651823 [GRCh38]
Chr19:651823 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.335G>A (p.Arg112Gln) single nucleotide variant not specified [RCV004205196] Chr19:651719 [GRCh38]
Chr19:651719 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.262G>A (p.Asp88Asn) single nucleotide variant not specified [RCV004181066] Chr19:651792 [GRCh38]
Chr19:651792 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.253G>A (p.Gly85Ser) single nucleotide variant not specified [RCV004206535] Chr19:651801 [GRCh38]
Chr19:651801 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.173C>G (p.Thr58Arg) single nucleotide variant not specified [RCV004145755] Chr19:652258 [GRCh38]
Chr19:652258 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.722G>A (p.Arg241His) single nucleotide variant not specified [RCV004225054] Chr19:648436 [GRCh38]
Chr19:648436 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.350C>T (p.Pro117Leu) single nucleotide variant not specified [RCV004079824] Chr19:651704 [GRCh38]
Chr19:651704 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.382C>T (p.Arg128Cys) single nucleotide variant not specified [RCV004162067] Chr19:651672 [GRCh38]
Chr19:651672 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.112G>C (p.Glu38Gln) single nucleotide variant not specified [RCV004151333] Chr19:652848 [GRCh38]
Chr19:652848 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.389G>A (p.Arg130His) single nucleotide variant not specified [RCV004247122] Chr19:651665 [GRCh38]
Chr19:651665 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.404G>A (p.Arg135Gln) single nucleotide variant not specified [RCV004185719] Chr19:651650 [GRCh38]
Chr19:651650 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.385G>A (p.Ala129Thr) single nucleotide variant not specified [RCV004208108] Chr19:651669 [GRCh38]
Chr19:651669 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.332G>A (p.Arg111Gln) single nucleotide variant not specified [RCV004199577] Chr19:651722 [GRCh38]
Chr19:651722 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.313G>A (p.Gly105Ser) single nucleotide variant not specified [RCV004189062] Chr19:651741 [GRCh38]
Chr19:651741 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.356G>A (p.Arg119Gln) single nucleotide variant not specified [RCV004231612] Chr19:651698 [GRCh38]
Chr19:651698 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.439G>C (p.Glu147Gln) single nucleotide variant not specified [RCV004094962] Chr19:651615 [GRCh38]
Chr19:651615 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.748C>A (p.Leu250Met) single nucleotide variant not specified [RCV004274701] Chr19:648410 [GRCh38]
Chr19:648410 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.914A>G (p.Glu305Gly) single nucleotide variant not specified [RCV004268916] Chr19:648150 [GRCh38]
Chr19:648150 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.50C>A (p.Ser17Tyr) single nucleotide variant not specified [RCV004278592] Chr19:663072 [GRCh38]
Chr19:663072 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.22C>G (p.Pro8Ala) single nucleotide variant not specified [RCV004361442] Chr19:663100 [GRCh38]
Chr19:663100 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.802G>A (p.Val268Ile) single nucleotide variant not specified [RCV004362032] Chr19:648262 [GRCh38]
Chr19:648262 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.890C>T (p.Ser297Phe) single nucleotide variant not specified [RCV004351160] Chr19:648174 [GRCh38]
Chr19:648174 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-713630)x1 copy number loss not provided [RCV003483344] Chr19:260912..713630 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_194460.3(RNF126):c.57G>A (p.Glu19=) single nucleotide variant not provided [RCV003423140] Chr19:663065 [GRCh38]
Chr19:663065 [GRCh37]
Chr19:19p13.3		 likely benign
NM_194460.3(RNF126):c.300G>A (p.Ala100=) single nucleotide variant not provided [RCV003421689] Chr19:651754 [GRCh38]
Chr19:651754 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh37/hg19 19p13.3(chr19:260911-1210337)x1 copy number loss not specified [RCV003986113] Chr19:260911..1210337 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:352288-1186507)x3 copy number gain not specified [RCV003986107] Chr19:352288..1186507 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.481G>A (p.Ala161Thr) single nucleotide variant not specified [RCV004454360] Chr19:650259 [GRCh38]
Chr19:650259 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.284C>T (p.Thr95Met) single nucleotide variant not specified [RCV004454355] Chr19:651770 [GRCh38]
Chr19:651770 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.362G>A (p.Arg121Gln) single nucleotide variant not specified [RCV004454357] Chr19:651692 [GRCh38]
Chr19:651692 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.303G>C (p.Gln101His) single nucleotide variant not specified [RCV004454356] Chr19:651751 [GRCh38]
Chr19:651751 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.401G>A (p.Arg134Gln) single nucleotide variant not specified [RCV004454358] Chr19:651653 [GRCh38]
Chr19:651653 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.460G>A (p.Val154Ile) single nucleotide variant not specified [RCV004454359] Chr19:650280 [GRCh38]
Chr19:650280 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.847C>G (p.Pro283Ala) single nucleotide variant not specified [RCV004663405] Chr19:648217 [GRCh38]
Chr19:648217 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.893C>T (p.Ser298Phe) single nucleotide variant not specified [RCV004663403] Chr19:648171 [GRCh38]
Chr19:648171 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.517C>T (p.His173Tyr) single nucleotide variant not specified [RCV004663404] Chr19:649738 [GRCh38]
Chr19:649738 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.919G>A (p.Ala307Thr) single nucleotide variant not specified [RCV004672100] Chr19:648145 [GRCh38]
Chr19:648145 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.191C>T (p.Pro64Leu) single nucleotide variant not specified [RCV004672099] Chr19:652240 [GRCh38]
Chr19:652240 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_194460.3(RNF126):c.265G>C (p.Asp89His) single nucleotide variant not specified [RCV004672102] Chr19:651789 [GRCh38]
Chr19:651789 [GRCh37]
Chr19:19p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4531
Count of miRNA genes:943
Interacting mature miRNAs:1169
Transcripts:ENST00000292363, ENST00000586749, ENST00000589762, ENST00000590885, ENST00000591356, ENST00000591394, ENST00000591452, ENST00000592418, ENST00000592626, ENST00000605891, ENST00000606702, ENST00000606896
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
407032206GWAS681182_Harterial stiffness measurement QTL GWAS681182 (human)0.0000001arterial stiffness measurementpulse wave velocity (CMO:0003717)19658013658014Human
407277513GWAS926489_Hvaginal microbiome measurement QTL GWAS926489 (human)0.000001vaginal microbiome measurement19661180661181Human
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
406972633GWAS621609_Hprotein measurement QTL GWAS621609 (human)1e-39protein measurement19652206652207Human
407370076GWAS1019052_Hacute myeloid leukemia QTL GWAS1019052 (human)5e-21acute myeloid leukemia19655608655609Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
407370075GWAS1019051_Hacute myeloid leukemia QTL GWAS1019051 (human)1e-26acute myeloid leukemia19655608655609Human
407042910GWAS691886_Harterial stiffness measurement QTL GWAS691886 (human)0.0000008arterial stiffness measurementpulse wave velocity (CMO:0003717)19656701656702Human
407170905GWAS819881_Hblood protein measurement QTL GWAS819881 (human)3e-57blood protein measurementblood protein measurement (CMO:0000028)19657588657589Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human

Markers in Region
RH93336  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719647,819 - 647,911UniSTSGRCh37
Build 3619598,819 - 598,911RGDNCBI36
Celera19169,686 - 169,778RGD
Cytogenetic Map19p13.3UniSTS
HuRef19417,654 - 417,746UniSTS
GeneMap99-GB4 RH Map1918.58UniSTS
RNF126_1973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719647,523 - 648,202UniSTSGRCh37
Build 3619598,523 - 599,202RGDNCBI36
Celera19169,395 - 170,074RGD
HuRef19417,358 - 418,037UniSTS
MARC_14879-14880:1010077235:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719648,949 - 649,733UniSTSGRCh37
Build 3619599,949 - 600,733RGDNCBI36
Celera19167,862 - 168,648RGD
HuRef19418,784 - 419,570UniSTS


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 2438 2788 2252 4970 1725 2351 5 623 1951 465 2270 7303 6470 53 3731 1 852 1744 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_194460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL360265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG773910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM558139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM810439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA440294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000292363   ⟹   ENSP00000292363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19647,526 - 663,214 (-)Ensembl
Ensembl Acc Id: ENST00000586749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19647,530 - 650,594 (-)Ensembl
Ensembl Acc Id: ENST00000589762   ⟹   ENSP00000464945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19648,132 - 663,233 (-)Ensembl
Ensembl Acc Id: ENST00000590885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19647,529 - 661,402 (-)Ensembl
Ensembl Acc Id: ENST00000591394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19651,385 - 663,185 (-)Ensembl
Ensembl Acc Id: ENST00000592626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19652,358 - 663,171 (-)Ensembl
Ensembl Acc Id: ENST00000605891   ⟹   ENSP00000475833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19647,526 - 663,194 (-)Ensembl
RefSeq Acc Id: NM_001366018   ⟹   NP_001352947
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819647,526 - 663,214 (-)NCBI
T2T-CHM13v2.019601,753 - 617,249 (-)NCBI
Sequence:
RefSeq Acc Id: NM_194460   ⟹   NP_919442
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819647,526 - 663,214 (-)NCBI
GRCh3719647,526 - 663,313 (-)NCBI
Build 3619598,526 - 614,227 (-)NCBI Archive
Celera19154,322 - 170,071 (+)RGD
HuRef19417,361 - 433,064 (-)RGD
CHM1_119647,187 - 662,920 (-)NCBI
T2T-CHM13v2.019601,753 - 617,249 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047439069   ⟹   XP_047295025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819648,421 - 663,214 (-)NCBI
RefSeq Acc Id: XM_054321409   ⟹   XP_054177384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019602,648 - 617,249 (-)NCBI
RefSeq Acc Id: NP_919442   ⟸   NM_194460
- Peptide Label: isoform 1
- UniProtKB: Q9NWX1 (UniProtKB/Swiss-Prot),   Q9BV68 (UniProtKB/Swiss-Prot),   A8K0Q1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001352947   ⟸   NM_001366018
- Peptide Label: isoform 2
- UniProtKB: K7EIY6 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000292363   ⟸   ENST00000292363
Ensembl Acc Id: ENSP00000464945   ⟸   ENST00000589762
Ensembl Acc Id: ENSP00000475833   ⟸   ENST00000605891
RefSeq Acc Id: XP_047295025   ⟸   XM_047439069
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177384   ⟸   XM_054321409
- Peptide Label: isoform X1
Protein Domains
E3 ubiquitin-protein ligase RNF126-like zinc-ribbon   RING-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BV68-F1-model_v2 AlphaFold Q9BV68 1-311 view protein structure

Promoters
RGD ID:6811724
Promoter ID:HG_ACW:38962
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:RNF126.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3619612,331 - 612,831 (-)MPROMDB
RGD ID:6795394
Promoter ID:HG_KWN:28329
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000340092,   UC010DRS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3619614,041 - 614,552 (-)MPROMDB
RGD ID:7237705
Promoter ID:EPDNEW_H24598
Type:initiation region
Name:RNF126_1
Description:ring finger protein 126
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24599  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819663,184 - 663,244EPDNEW
RGD ID:7237707
Promoter ID:EPDNEW_H24599
Type:initiation region
Name:RNF126_2
Description:ring finger protein 126
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24598  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819663,610 - 663,670EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21151 AgrOrtholog
COSMIC RNF126 COSMIC
Ensembl Genes ENSG00000070423 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000292363 ENTREZGENE
  ENST00000292363.10 UniProtKB/Swiss-Prot
  ENST00000589762 ENTREZGENE
  ENST00000589762.5 UniProtKB/TrEMBL
  ENST00000605891.5 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000070423 GTEx
HGNC ID HGNC:21151 ENTREZGENE
Human Proteome Map RNF126 Human Proteome Map
InterPro RNF126-like_zinc-ribbon UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55658 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55658 ENTREZGENE
OMIM 615177 OMIM
PANTHER E3 UBIQUITIN-PROTEIN LIGASE PRAJA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15710:SF21 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-RING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zinc_ribbon_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134876469 PharmGKB
PROSITE ZF_RING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K0Q1 ENTREZGENE, UniProtKB/TrEMBL
  K7EIY6 ENTREZGENE, UniProtKB/TrEMBL
  Q9BV68 ENTREZGENE
  Q9NWX1 ENTREZGENE
  RN126_HUMAN UniProtKB/Swiss-Prot
  U3KQF4_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q9NWX1 UniProtKB/Swiss-Prot