ZNRF1 (zinc and ring finger 1) - Rat Genome Database

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Gene: ZNRF1 (zinc and ring finger 1) Homo sapiens
Analyze
Symbol: ZNRF1
Name: zinc and ring finger 1
RGD ID: 1349961
HGNC Page HGNC:18452
Description: Enables ubiquitin protein ligase activity. Involved in positive regulation of toll-like receptor 4 signaling pathway. Located in cytosol; endosome; and membrane. Is active in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp434E229; E3 ubiquitin-protein ligase ZNRF1; FLJ14846; FLJ46491; MGC15430; nerve injury gene 283; nerve injury-induced gene 283 protein; NIN283; RING-type E3 ubiquitin transferase ZNRF1; zinc and ring finger 1, E3 ubiquitin protein ligase; zinc and ring finger protein 1; zinc/RING finger protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381674,999,024 - 75,110,994 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1674,999,024 - 75,110,994 (+)EnsemblGRCh38hg38GRCh38
GRCh371675,032,922 - 75,144,892 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361673,590,416 - 73,702,393 (+)NCBINCBI36Build 36hg18NCBI36
Build 341673,590,415 - 73,702,393NCBI
Celera1659,325,881 - 59,437,794 (+)NCBICelera
Cytogenetic Map16q23.1NCBI
HuRef1660,784,212 - 60,895,817 (+)NCBIHuRef
CHM1_11676,445,151 - 76,557,062 (+)NCBICHM1_1
T2T-CHM13v2.01681,045,795 - 81,157,694 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:11256614   PMID:11427537   PMID:12477932   PMID:14561866   PMID:14702039   PMID:15489334   PMID:15489336   PMID:16381901   PMID:19028597   PMID:19549727  
PMID:19690564   PMID:19737534   PMID:19844255   PMID:20107048   PMID:21873635   PMID:22797923   PMID:23665963   PMID:25819896   PMID:26186194   PMID:27173435   PMID:28514442   PMID:28593998  
PMID:29509190   PMID:29626159   PMID:32296183   PMID:33961781   PMID:35748872   PMID:35895752   PMID:36966254   PMID:37158982  


Genomics

Comparative Map Data
ZNRF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381674,999,024 - 75,110,994 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1674,999,024 - 75,110,994 (+)EnsemblGRCh38hg38GRCh38
GRCh371675,032,922 - 75,144,892 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361673,590,416 - 73,702,393 (+)NCBINCBI36Build 36hg18NCBI36
Build 341673,590,415 - 73,702,393NCBI
Celera1659,325,881 - 59,437,794 (+)NCBICelera
Cytogenetic Map16q23.1NCBI
HuRef1660,784,212 - 60,895,817 (+)NCBIHuRef
CHM1_11676,445,151 - 76,557,062 (+)NCBICHM1_1
T2T-CHM13v2.01681,045,795 - 81,157,694 (+)NCBIT2T-CHM13v2.0
Znrf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398112,262,652 - 112,352,352 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8112,262,729 - 112,352,662 (+)EnsemblGRCm39 Ensembl
GRCm388111,536,484 - 111,625,720 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8111,536,097 - 111,626,030 (+)EnsemblGRCm38mm10GRCm38
MGSCv378114,060,540 - 114,149,930 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368114,423,515 - 114,510,451 (+)NCBIMGSCv36mm8
Celera8115,764,236 - 115,853,550 (+)NCBICelera
Cytogenetic Map8E1NCBI
cM Map857.98NCBI
Znrf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81956,403,816 - 56,490,901 (+)NCBIGRCr8
mRatBN7.21939,496,414 - 39,581,600 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1939,496,527 - 39,580,969 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1946,296,356 - 46,380,722 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01946,949,689 - 47,034,049 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01949,254,321 - 49,338,675 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01943,750,205 - 43,834,962 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1943,750,278 - 43,832,878 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01954,557,442 - 54,642,129 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41941,455,386 - 41,537,955 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1938,875,649 - 38,959,752 (+)NCBICelera
Cytogenetic Map19q12NCBI
Znrf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554842,468,392 - 2,566,539 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554842,468,392 - 2,566,539 (-)NCBIChiLan1.0ChiLan1.0
ZNRF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21884,716,474 - 84,828,132 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11690,638,445 - 90,750,117 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01655,567,875 - 55,679,524 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11674,920,141 - 75,030,933 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1674,920,141 - 75,030,933 (+)Ensemblpanpan1.1panPan2
ZNRF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1575,594,465 - 75,698,164 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl575,595,200 - 75,698,170 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha575,570,792 - 75,674,762 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0575,950,710 - 76,054,735 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl575,951,488 - 76,054,338 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1575,855,151 - 75,958,882 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0575,677,829 - 75,781,679 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0576,170,074 - 76,273,880 (-)NCBIUU_Cfam_GSD_1.0
Znrf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934935,670,243 - 35,774,914 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647523,814,194 - 23,916,530 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647523,814,200 - 23,918,871 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNRF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1612,555,655 - 12,668,807 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2612,430,136 - 12,432,305 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZNRF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1560,568,582 - 60,590,699 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604715,469,480 - 15,585,200 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Znrf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474611,848,425 - 11,954,784 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474611,847,627 - 11,954,637 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZNRF1
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1 copy number loss See cases [RCV000053356] Chr16:69918076..76723348 [GRCh38]
Chr16:69951979..76757245 [GRCh37]
Chr16:68509480..75314746 [NCBI36]
Chr16:16q22.1-23.1
pathogenic
GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1 copy number loss See cases [RCV000053357] Chr16:73049467..82576326 [GRCh38]
Chr16:73083366..82609931 [GRCh37]
Chr16:71640867..81167432 [NCBI36]
Chr16:16q22.3-23.3
pathogenic
GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3 copy number gain See cases [RCV000053868] Chr16:73917167..75319927 [GRCh38]
Chr16:73951066..75353825 [GRCh37]
Chr16:72508567..73911326 [NCBI36]
Chr16:16q22.3-23.1
uncertain significance
GRCh38/hg38 16q23.1(chr16:74658508-75378014)x3 copy number gain See cases [RCV000053893] Chr16:74658508..75378014 [GRCh38]
Chr16:74692406..75411912 [GRCh37]
Chr16:73249907..73969413 [NCBI36]
Chr16:16q23.1
uncertain significance
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1 copy number loss See cases [RCV000133814] Chr16:70414573..84908120 [GRCh38]
Chr16:70448476..84941726 [GRCh37]
Chr16:69005977..83499227 [NCBI36]
Chr16:16q22.1-24.1
pathogenic
GRCh38/hg38 16q23.1(chr16:74881191-75310294)x1 copy number loss See cases [RCV000135363] Chr16:74881191..75310294 [GRCh38]
Chr16:74915089..75344192 [GRCh37]
Chr16:73472590..73901693 [NCBI36]
Chr16:16q23.1
uncertain significance
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1
pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3 copy number gain See cases [RCV000139130] Chr16:74811982..75698467 [GRCh38]
Chr16:74845880..75732365 [GRCh37]
Chr16:73403381..74289866 [NCBI36]
Chr16:16q23.1
uncertain significance
GRCh38/hg38 16q23.1(chr16:74688486-75377736)x3 copy number gain See cases [RCV000141922] Chr16:74688486..75377736 [GRCh38]
Chr16:74722384..75411634 [GRCh37]
Chr16:73279885..73969135 [NCBI36]
Chr16:16q23.1
uncertain significance
GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3 copy number gain See cases [RCV000142038] Chr16:69053457..83274681 [GRCh38]
Chr16:69087360..83308286 [GRCh37]
Chr16:67644861..81865787 [NCBI36]
Chr16:16q22.1-23.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3
pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3
uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q23.1(chr16:74150909-77077326)x1 copy number loss See cases [RCV000512133] Chr16:74150909..77077326 [GRCh37]
Chr16:16q23.1
uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q23.1(chr16:75040327-75237490)x1 copy number loss not provided [RCV000683833] Chr16:75040327..75237490 [GRCh37]
Chr16:16q23.1
uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_032268.5(ZNRF1):c.424+140A>G single nucleotide variant not provided [RCV001679682] Chr16:75000235 [GRCh38]
Chr16:75034133 [GRCh37]
Chr16:16q23.1
benign
NM_032268.5(ZNRF1):c.83C>T (p.Pro28Leu) single nucleotide variant Inborn genetic diseases [RCV003268528] Chr16:74999754 [GRCh38]
Chr16:75033652 [GRCh37]
Chr16:16q23.1
uncertain significance
GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1 copy number loss not provided [RCV000847084] Chr16:72677179..77439111 [GRCh37]
Chr16:16q22.2-23.1
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787385] Chr16:74465138..75107923 [GRCh37]
Chr16:16q23.1
uncertain significance
GRCh37/hg19 16q23.1(chr16:74356233-75432089)x1 copy number loss not provided [RCV001006805] Chr16:74356233..75432089 [GRCh37]
Chr16:16q23.1
uncertain significance
NC_000016.10:g.74998834G>C single nucleotide variant not provided [RCV001696301] Chr16:74998834 [GRCh38]
Chr16:75032732 [GRCh37]
Chr16:16q23.1
benign
NM_032268.5(ZNRF1):c.424+221C>A single nucleotide variant not provided [RCV001678848] Chr16:75000316 [GRCh38]
Chr16:75034214 [GRCh37]
Chr16:16q23.1
benign
NM_032268.5(ZNRF1):c.-273C>T single nucleotide variant not provided [RCV001638414] Chr16:74999399 [GRCh38]
Chr16:75033297 [GRCh37]
Chr16:16q23.1
benign
NM_032268.5(ZNRF1):c.626+140A>G single nucleotide variant not provided [RCV001616921] Chr16:75105029 [GRCh38]
Chr16:75138927 [GRCh37]
Chr16:16q23.1
benign
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
GRCh37/hg19 16q23.1(chr16:74999819-75248871)x4 copy number gain not provided [RCV001006807] Chr16:74999819..75248871 [GRCh37]
Chr16:16q23.1
uncertain significance
GRCh37/hg19 16q23.1(chr16:75064591-75549654)x1 copy number loss not provided [RCV001258649] Chr16:75064591..75549654 [GRCh37]
Chr16:16q23.1
uncertain significance
NM_032268.5(ZNRF1):c.425-209C>T single nucleotide variant not provided [RCV001652498] Chr16:75093363 [GRCh38]
Chr16:75127261 [GRCh37]
Chr16:16q23.1
benign
NC_000016.9:g.(?_74748068)_(75513746_?)del deletion Macular corneal dystrophy [RCV001949688] Chr16:74748068..75513746 [GRCh37]
Chr16:16q23.1
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
NC_000016.9:g.(?_74485954)_(75339100_?)dup duplication Spastic paraplegia [RCV003122645] Chr16:74485954..75339100 [GRCh37]
Chr16:16q23.1
uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3
likely pathogenic
NM_032268.5(ZNRF1):c.115A>G (p.Thr39Ala) single nucleotide variant Inborn genetic diseases [RCV003302519] Chr16:74999786 [GRCh38]
Chr16:75033684 [GRCh37]
Chr16:16q23.1
likely benign
GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4 copy number gain not provided [RCV002475008] Chr16:73673334..76105189 [GRCh37]
Chr16:16q22.3-23.1
uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1 copy number loss not provided [RCV002475848] Chr16:73858079..75855162 [GRCh37]
Chr16:16q22.3-23.1
uncertain significance
NM_032268.5(ZNRF1):c.262G>C (p.Gly88Arg) single nucleotide variant Inborn genetic diseases [RCV002860535] Chr16:74999933 [GRCh38]
Chr16:75033831 [GRCh37]
Chr16:16q23.1
uncertain significance
NM_032268.5(ZNRF1):c.302A>G (p.Asn101Ser) single nucleotide variant Inborn genetic diseases [RCV002753836] Chr16:74999973 [GRCh38]
Chr16:75033871 [GRCh37]
Chr16:16q23.1
uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1 copy number loss not provided [RCV002475774] Chr16:73673334..78137887 [GRCh37]
Chr16:16q22.3-23.1
uncertain significance
NM_032268.5(ZNRF1):c.323G>C (p.Gly108Ala) single nucleotide variant Inborn genetic diseases [RCV002689174] Chr16:74999994 [GRCh38]
Chr16:75033892 [GRCh37]
Chr16:16q23.1
uncertain significance
NM_032268.5(ZNRF1):c.180C>G (p.Asp60Glu) single nucleotide variant Inborn genetic diseases [RCV002950505] Chr16:74999851 [GRCh38]
Chr16:75033749 [GRCh37]
Chr16:16q23.1
uncertain significance
NM_032268.5(ZNRF1):c.413G>C (p.Ser138Thr) single nucleotide variant Inborn genetic diseases [RCV002940757] Chr16:75000084 [GRCh38]
Chr16:75033982 [GRCh37]
Chr16:16q23.1
uncertain significance
NM_032268.5(ZNRF1):c.149C>G (p.Ser50Trp) single nucleotide variant Inborn genetic diseases [RCV002723195] Chr16:74999820 [GRCh38]
Chr16:75033718 [GRCh37]
Chr16:16q23.1
uncertain significance
NM_032268.5(ZNRF1):c.431A>C (p.Lys144Thr) single nucleotide variant Inborn genetic diseases [RCV003365140] Chr16:75093578 [GRCh38]
Chr16:75127476 [GRCh37]
Chr16:16q23.1
uncertain significance
GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3 copy number gain not provided [RCV003485121] Chr16:70607067..81561138 [GRCh37]
Chr16:16q22.1-23.2
pathogenic
GRCh37/hg19 16q23.1(chr16:74741456-75085898)x3 copy number gain not provided [RCV003485124] Chr16:74741456..75085898 [GRCh37]
Chr16:16q23.1
uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:74079694-75352818)x1 copy number loss not specified [RCV003987133] Chr16:74079694..75352818 [GRCh37]
Chr16:16q22.3-23.1
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4756
Count of miRNA genes:1117
Interacting mature miRNAs:1427
Transcripts:ENST00000320619, ENST00000335325, ENST00000564320, ENST00000566244, ENST00000566250, ENST00000567962, ENST00000568351, ENST00000568494, ENST00000568511, ENST00000568844, ENST00000579084
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.

Markers in Region
A004T26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,144,403 - 75,144,549UniSTSGRCh37
Build 361673,701,904 - 73,702,050RGDNCBI36
Celera1659,437,305 - 59,437,451RGD
Cytogenetic Map16q23.1UniSTS
HuRef1660,895,328 - 60,895,474UniSTS
GeneMap99-GB4 RH Map16446.85UniSTS
Whitehead-RH Map16321.4UniSTS
NCBI RH Map16584.6UniSTS
SHGC-61187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,099,503 - 75,099,677UniSTSGRCh37
Build 361673,657,004 - 73,657,178RGDNCBI36
Celera1659,392,400 - 59,392,574RGD
Cytogenetic Map16q23.1UniSTS
HuRef1660,850,391 - 60,850,565UniSTS
GeneMap99-GB4 RH Map16446.75UniSTS
NCBI RH Map16584.6UniSTS
D16S3184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,144,269 - 75,144,440UniSTSGRCh37
Build 361673,701,770 - 73,701,941RGDNCBI36
Celera1659,437,171 - 59,437,342RGD
Cytogenetic Map16q23.1UniSTS
HuRef1660,895,194 - 60,895,365UniSTS
RH64877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,144,359 - 75,144,483UniSTSGRCh37
Build 361673,701,860 - 73,701,984RGDNCBI36
Celera1659,437,261 - 59,437,385RGD
Cytogenetic Map16q23.1UniSTS
HuRef1660,895,284 - 60,895,408UniSTS
G43020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,045,088 - 75,045,287UniSTSGRCh37
Build 361673,602,589 - 73,602,788RGDNCBI36
Celera1659,338,052 - 59,338,251RGD
Cytogenetic Map16q23.1UniSTS
HuRef1660,796,066 - 60,796,265UniSTS
RH102768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,141,982 - 75,142,159UniSTSGRCh37
Build 361673,699,483 - 73,699,660RGDNCBI36
Celera1659,434,884 - 59,435,061RGD
Cytogenetic Map16q23.1UniSTS
HuRef1660,892,907 - 60,893,084UniSTS
GeneMap99-GB4 RH Map16446.95UniSTS
SHGC-84608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,134,306 - 75,134,473UniSTSGRCh37
Build 361673,691,807 - 73,691,974RGDNCBI36
Celera1659,427,208 - 59,427,375RGD
Cytogenetic Map16q23.1UniSTS
HuRef1660,885,209 - 60,885,376UniSTS
TNG Radiation Hybrid Map1633852.0UniSTS
TNG Radiation Hybrid Map1633843.0UniSTS
G59919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,045,088 - 75,045,278UniSTSGRCh37
Build 361673,602,589 - 73,602,779RGDNCBI36
Celera1659,338,052 - 59,338,242RGD
Cytogenetic Map16q23.1UniSTS
HuRef1660,796,066 - 60,796,256UniSTS
TNG Radiation Hybrid Map1633827.0UniSTS
D16S2877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,117,084 - 75,117,190UniSTSGRCh37
Build 361673,674,585 - 73,674,691RGDNCBI36
Celera1659,409,983 - 59,410,089RGD
Cytogenetic Map16q23.1UniSTS
HuRef1660,867,982 - 60,868,088UniSTS
RH68472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,045,144 - 75,045,274UniSTSGRCh37
Build 361673,602,645 - 73,602,775RGDNCBI36
Celera1659,338,108 - 59,338,238RGD
Cytogenetic Map16q23.1UniSTS
HuRef1660,796,122 - 60,796,252UniSTS
GeneMap99-GB4 RH Map16446.75UniSTS
NCBI RH Map16584.6UniSTS
RH68389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,144,374 - 75,144,540UniSTSGRCh37
Build 361673,701,875 - 73,702,041RGDNCBI36
Celera1659,437,276 - 59,437,442RGD
Cytogenetic Map16q23.1UniSTS
HuRef1660,895,299 - 60,895,465UniSTS
GeneMap99-GB4 RH Map16447.14UniSTS
NCBI RH Map16584.6UniSTS
RH36321  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,076,471 - 75,076,571UniSTSGRCh37
Build 361673,633,972 - 73,634,072RGDNCBI36
Celera1659,369,436 - 59,369,536RGD
Cytogenetic Map16q23.1UniSTS
HuRef1660,827,433 - 60,827,533UniSTS
GeneMap99-GB4 RH Map16446.62UniSTS
NCBI RH Map16584.6UniSTS
ZNRF1__4725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,141,794 - 75,142,589UniSTSGRCh37
Build 361673,699,295 - 73,700,090RGDNCBI36
Celera1659,434,696 - 59,435,491RGD
HuRef1660,892,719 - 60,893,514UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1491 400 968 100 208 47 3012 1205 1693 90 1202 1444 62 809 1737 2
Low 948 2582 757 524 1656 418 1344 991 2038 329 256 168 113 1 395 1051 3 2
Below cutoff 7 1 57 1 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_032268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC092383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF378524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX961904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ884230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC309814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000320619   ⟹   ENSP00000323362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,999,037 - 75,108,707 (+)Ensembl
RefSeq Acc Id: ENST00000335325   ⟹   ENSP00000335091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,999,024 - 75,110,994 (+)Ensembl
RefSeq Acc Id: ENST00000564320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,000,242 - 75,107,774 (+)Ensembl
RefSeq Acc Id: ENST00000566244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,104,060 - 75,108,039 (+)Ensembl
RefSeq Acc Id: ENST00000566250   ⟹   ENSP00000456168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,999,345 - 75,105,005 (+)Ensembl
RefSeq Acc Id: ENST00000567962   ⟹   ENSP00000455601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1674,999,345 - 75,108,028 (+)Ensembl
RefSeq Acc Id: ENST00000568351   ⟹   ENSP00000457606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,104,784 - 75,108,590 (+)Ensembl
RefSeq Acc Id: ENST00000568494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,104,798 - 75,108,004 (+)Ensembl
RefSeq Acc Id: ENST00000568511   ⟹   ENSP00000462910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,002,297 - 75,104,889 (+)Ensembl
RefSeq Acc Id: ENST00000568844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,105,383 - 75,110,713 (+)Ensembl
RefSeq Acc Id: ENST00000579084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,095,144 - 75,105,336 (+)Ensembl
RefSeq Acc Id: NM_032268   ⟹   NP_115644
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,999,024 - 75,110,994 (+)NCBI
GRCh371675,032,915 - 75,144,892 (+)NCBI
Build 361673,590,416 - 73,702,393 (+)NCBI Archive
Celera1659,325,881 - 59,437,794 (+)RGD
HuRef1660,784,212 - 60,895,817 (+)RGD
CHM1_11676,445,151 - 76,557,062 (+)NCBI
T2T-CHM13v2.01681,045,795 - 81,157,694 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523392   ⟹   XP_011521694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,999,024 - 75,084,528 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023793   ⟹   XP_016879282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,999,024 - 75,110,713 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023794   ⟹   XP_016879283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,999,024 - 75,007,078 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054314210   ⟹   XP_054170185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01681,045,795 - 81,157,411 (+)NCBI
RefSeq Acc Id: XM_054314211   ⟹   XP_054170186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01681,045,795 - 81,131,222 (+)NCBI
RefSeq Acc Id: NP_115644   ⟸   NM_032268
- UniProtKB: D3DUJ9 (UniProtKB/Swiss-Prot),   Q9H083 (UniProtKB/Swiss-Prot),   Q8ND25 (UniProtKB/Swiss-Prot),   H3BRB6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521694   ⟸   XM_011523392
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016879282   ⟸   XM_017023793
- Peptide Label: isoform X1
- UniProtKB: D3DUJ9 (UniProtKB/Swiss-Prot),   Q9H083 (UniProtKB/Swiss-Prot),   Q8ND25 (UniProtKB/Swiss-Prot),   H3BRB6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016879283   ⟸   XM_017023794
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000323362   ⟸   ENST00000320619
RefSeq Acc Id: ENSP00000335091   ⟸   ENST00000335325
RefSeq Acc Id: ENSP00000456168   ⟸   ENST00000566250
RefSeq Acc Id: ENSP00000455601   ⟸   ENST00000567962
RefSeq Acc Id: ENSP00000457606   ⟸   ENST00000568351
RefSeq Acc Id: ENSP00000462910   ⟸   ENST00000568511
RefSeq Acc Id: XP_054170185   ⟸   XM_054314210
- Peptide Label: isoform X1
- UniProtKB: Q8ND25 (UniProtKB/Swiss-Prot),   D3DUJ9 (UniProtKB/Swiss-Prot),   Q9H083 (UniProtKB/Swiss-Prot),   H3BRB6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170186   ⟸   XM_054314211
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8ND25-F1-model_v2 AlphaFold Q8ND25 1-227 view protein structure

Promoters
RGD ID:6793651
Promoter ID:HG_KWN:24260
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000320619,   NM_032268,   UC002FDK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361673,590,146 - 73,591,417 (+)MPROMDB
RGD ID:6814587
Promoter ID:HG_XEF:3143
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:NM_001168623
Position:
Human AssemblyChrPosition (strand)Source
Build 361673,591,431 - 73,591,931 (+)MPROMDB
RGD ID:7232835
Promoter ID:EPDNEW_H22163
Type:initiation region
Name:ZNRF1_3
Description:zinc and ring finger 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22165  EPDNEW_H22164  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,998,672 - 74,998,732EPDNEW
RGD ID:7232839
Promoter ID:EPDNEW_H22164
Type:initiation region
Name:ZNRF1_1
Description:zinc and ring finger 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22163  EPDNEW_H22165  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,999,024 - 74,999,084EPDNEW
RGD ID:7232837
Promoter ID:EPDNEW_H22165
Type:initiation region
Name:ZNRF1_2
Description:zinc and ring finger 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22163  EPDNEW_H22164  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381674,999,385 - 74,999,445EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18452 AgrOrtholog
COSMIC ZNRF1 COSMIC
Ensembl Genes ENSG00000186187 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000320619.10 UniProtKB/Swiss-Prot
  ENST00000335325 ENTREZGENE
  ENST00000335325.9 UniProtKB/Swiss-Prot
  ENST00000566250 ENTREZGENE
  ENST00000566250.5 UniProtKB/TrEMBL
  ENST00000567962.5 UniProtKB/Swiss-Prot
  ENST00000568351.1 UniProtKB/TrEMBL
  ENST00000568511.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000186187 GTEx
HGNC ID HGNC:18452 ENTREZGENE
Human Proteome Map ZNRF1 Human Proteome Map
InterPro Znf_RING UniProtKB/Swiss-Prot
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84937 UniProtKB/Swiss-Prot
NCBI Gene 84937 ENTREZGENE
OMIM 612060 OMIM
PANTHER E3 UBIQUITIN-PROTEIN LIGASE ZNRF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E3 UBIQUITIN-PROTEIN LIGASE ZNRF1-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-RING_2 UniProtKB/Swiss-Prot
PharmGKB PA134938288 PharmGKB
PROSITE ZF_RING_2 UniProtKB/Swiss-Prot
SMART RING UniProtKB/Swiss-Prot
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DUJ9 ENTREZGENE
  H3BRB6 ENTREZGENE, UniProtKB/TrEMBL
  H3BUF0_HUMAN UniProtKB/TrEMBL
  J3KTB9_HUMAN UniProtKB/TrEMBL
  L8E9D1_HUMAN UniProtKB/TrEMBL
  Q8ND25 ENTREZGENE
  Q9H083 ENTREZGENE
  ZNRF1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary D3DUJ9 UniProtKB/Swiss-Prot
  Q9H083 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-02 ZNRF1  zinc and ring finger 1  ZNRF1  zinc and ring finger 1, E3 ubiquitin protein ligase  Symbol and/or name change 5135510 APPROVED
2012-03-01 ZNRF1  zinc and ring finger 1, E3 ubiquitin protein ligase  ZNRF1  zinc and ring finger 1  Symbol and/or name change 5135510 APPROVED