RNF4 (ring finger protein 4) - Rat Genome Database

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Gene: RNF4 (ring finger protein 4) Homo sapiens
Analyze
Symbol: RNF4
Name: ring finger protein 4
RGD ID: 737478
HGNC Page HGNC:10067
Description: Enables SUMO polymer binding activity; identical protein binding activity; and ubiquitin protein ligase activity. Involved in several processes, including negative regulation of protein localization to chromatin; positive regulation of transcription by RNA polymerase II; and regulation of organelle assembly. Located in PML body; cytoplasm; and microtubule end. Biomarker of Angelman syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: E3 ubiquitin ligase RNF4; E3 ubiquitin-protein ligase RNF4; RES4-26; RING-type E3 ubiquitin transferase RNF4; SLX5; small nuclear RING finger protein; SNURF
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC644006   RNF4BP  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3842,469,106 - 2,515,857 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl42,462,220 - 2,515,857 (+)EnsemblGRCh38hg38GRCh38
GRCh3742,470,833 - 2,517,584 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3642,440,605 - 2,487,382 (+)NCBINCBI36Build 36hg18NCBI36
Build 3442,438,037 - 2,484,812NCBI
Celera42,381,995 - 2,428,665 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef42,410,726 - 2,457,392 (+)NCBIHuRef
CHM1_142,468,951 - 2,515,567 (+)NCBICHM1_1
T2T-CHM13v2.042,467,864 - 2,514,631 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-ethoxyethanol  (ISO)
2-methoxyethanol  (ISO)
2-methylcholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
5-fluorouracil  (EXP)
acrolein  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
caffeine  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
colforsin daropate hydrochloride  (ISO)
crocidolite asbestos  (ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
Dibutyl phosphate  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
disodium selenite  (EXP)
diuron  (ISO)
doxorubicin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
fenpyroximate  (EXP)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (ISO)
genistein  (ISO)
gentamycin  (ISO)
hydrogen cyanide  (ISO)
hydroxyurea  (ISO)
hypochlorous acid  (ISO)
L-methionine  (ISO)
levofloxacin  (ISO)
Methylazoxymethanol acetate  (ISO)
Mono-carboxy isooctyl phthalate  (EXP)
nefazodone  (ISO)
ozone  (EXP)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
potassium cyanide  (ISO)
progesterone  (ISO)
pyrogallol  (ISO)
resveratrol  (EXP)
rotenone  (EXP)
sodium arsenite  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
triticonazole  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA)
microtubule end  (IDA)
nuclear body  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IDA,IEA)
PML body  (IBA,IDA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. The Nrf2 regulatory network provides an interface between redox and intermediary metabolism. Hayes JD and Dinkova-Kostova AT, Trends Biochem Sci. 2014 Apr;39(4):199-218. doi: 10.1016/j.tibs.2014.02.002. Epub 2014 Mar 16.
3. Down-regulation of estrogen receptor beta and transcriptional coregulator SNURF/RNF4 in testicular germ cell cancer. Hirvonen-Santti SJ, etal., Eur Urol. 2003 Dec;44(6):742-7; discussion 747.
4. Push back to respond better: regulatory inhibition of the DNA double-strand break response. Panier S and Durocher D, Nat Rev Mol Cell Biol. 2013 Oct;14(10):661-72. doi: 10.1038/nrm3659. Epub 2013 Sep 4.
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. Runte M, etal., Hum Genet. 2004 May;114(6):553-61. Epub 2004 Mar 10.
Additional References at PubMed
PMID:8889548   PMID:9479498   PMID:9710597   PMID:9734812   PMID:10617653   PMID:10713105   PMID:10822263   PMID:10849425   PMID:11319220   PMID:11696545   PMID:11719514   PMID:12351196  
PMID:12477932   PMID:12874792   PMID:12885770   PMID:15231748   PMID:15489334   PMID:15572661   PMID:15707587   PMID:16344560   PMID:17762865   PMID:18029348   PMID:18408734   PMID:18708055  
PMID:19380586   PMID:19524139   PMID:19549727   PMID:19690564   PMID:20211142   PMID:20212317   PMID:20379614   PMID:20696907   PMID:20936779   PMID:20943951   PMID:21252943   PMID:21857666  
PMID:21873635   PMID:21983342   PMID:22106342   PMID:22388745   PMID:22493164   PMID:22505616   PMID:22661229   PMID:22661230   PMID:23028697   PMID:23086935   PMID:23211528   PMID:23504328  
PMID:23530056   PMID:23543742   PMID:23560854   PMID:23602568   PMID:24151981   PMID:24637324   PMID:24656128   PMID:24714598   PMID:24844634   PMID:24882209   PMID:24907272   PMID:24969970  
PMID:25355316   PMID:25533185   PMID:25588990   PMID:25751062   PMID:25895136   PMID:25960396   PMID:25969536   PMID:26148049   PMID:26299341   PMID:26450775   PMID:26511642   PMID:26766492  
PMID:26950370   PMID:27072586   PMID:27185577   PMID:27312341   PMID:27653698   PMID:27678051   PMID:28201649   PMID:28275011   PMID:28414785   PMID:28611215   PMID:28620180   PMID:28622293  
PMID:28842558   PMID:28951443   PMID:29107745   PMID:29117863   PMID:29120074   PMID:29180619   PMID:29371964   PMID:29549242   PMID:29634367   PMID:29642013   PMID:29695423   PMID:30279700  
PMID:30282802   PMID:30559154   PMID:31048496   PMID:31059647   PMID:31087003   PMID:32197837   PMID:32295906   PMID:32296183   PMID:32360601   PMID:32513696   PMID:32521226   PMID:32722882  
PMID:32733036   PMID:32786267   PMID:33188014   PMID:33723063   PMID:33961781   PMID:34326324   PMID:34550526   PMID:34599178   PMID:34868226   PMID:35007836   PMID:35013556   PMID:35044719  
PMID:35124373   PMID:35236966   PMID:35563538   PMID:35622143   PMID:35926659   PMID:36153321   PMID:36758106   PMID:38340377   PMID:38530355  


Genomics

Comparative Map Data
RNF4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3842,469,106 - 2,515,857 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl42,462,220 - 2,515,857 (+)EnsemblGRCh38hg38GRCh38
GRCh3742,470,833 - 2,517,584 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3642,440,605 - 2,487,382 (+)NCBINCBI36Build 36hg18NCBI36
Build 3442,438,037 - 2,484,812NCBI
Celera42,381,995 - 2,428,665 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef42,410,726 - 2,457,392 (+)NCBIHuRef
CHM1_142,468,951 - 2,515,567 (+)NCBICHM1_1
T2T-CHM13v2.042,467,864 - 2,514,631 (+)NCBIT2T-CHM13v2.0
Rnf4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39534,493,594 - 34,510,789 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl534,493,633 - 34,512,973 (+)EnsemblGRCm39 Ensembl
GRCm38534,336,250 - 34,353,445 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl534,336,289 - 34,355,629 (+)EnsemblGRCm38mm10GRCm38
MGSCv37534,679,039 - 34,696,079 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36534,653,247 - 34,670,287 (+)NCBIMGSCv36mm8
Celera531,806,911 - 31,824,034 (+)NCBICelera
Cytogenetic Map5B2NCBI
cM Map517.87NCBI
Rnf4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81480,625,864 - 80,647,138 (-)NCBIGRCr8
mRatBN7.21476,401,292 - 76,423,270 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1476,401,299 - 76,422,566 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1480,855,542 - 80,874,657 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01482,096,173 - 82,115,286 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01478,541,415 - 78,560,532 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01481,658,400 - 81,679,756 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1481,660,354 - 81,679,082 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01482,345,311 - 82,366,467 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41482,092,024 - 82,112,036 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11482,093,652 - 82,114,081 (-)NCBI
Celera1475,327,677 - 75,346,979 (-)NCBICelera
Cytogenetic Map14q21NCBI
Rnf4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555141,511,062 - 1,523,714 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555141,501,943 - 1,525,689 (+)NCBIChiLan1.0ChiLan1.0
RNF4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v232,806,077 - 2,853,304 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan142,763,804 - 2,789,272 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v042,614,918 - 2,661,785 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.142,518,559 - 2,565,970 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl42,540,612 - 2,563,937 (+)Ensemblpanpan1.1panPan2
RNF4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1361,721,752 - 61,759,797 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl361,723,124 - 61,759,730 (-)EnsemblCanFam3.1canFam3CanFam3.1
Rnf4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528567,323,348 - 67,354,145 (-)NCBIHiC_Itri_2
SpeTri2.0NW_00493647721,025,040 - 21,055,821 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RNF4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl81,353,658 - 1,380,634 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.181,353,532 - 1,380,637 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28917,478 - 945,481 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RNF4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12746,245,786 - 46,290,671 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660512,616,728 - 2,662,730 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rnf4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475525,141,567 - 25,153,942 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475525,139,637 - 25,163,586 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RNF4
8 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3(chr4:620566-2958209)x3 copy number gain See cases [RCV000050834] Chr4:620566..2958209 [GRCh38]
Chr4:614355..2959936 [GRCh37]
Chr4:604355..2929734 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:51519-3775116)x3 copy number gain See cases [RCV000050948] Chr4:51519..3775116 [GRCh38]
Chr4:51413..3776843 [GRCh37]
Chr4:41413..3746641 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:1196923-2487080)x3 copy number gain See cases [RCV000051564] Chr4:1196923..2487080 [GRCh38]
Chr4:1190711..2488807 [GRCh37]
Chr4:1180711..2458605 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:56878-3870653)x1 copy number loss See cases [RCV000051613] Chr4:56878..3870653 [GRCh38]
Chr4:56772..3872380 [GRCh37]
Chr4:46772..3842178 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1676799-5212384)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|See cases [RCV000051807] Chr4:1676799..5212384 [GRCh38]
Chr4:1678526..5214111 [GRCh37]
Chr4:1648324..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3 copy number gain See cases [RCV000051756] Chr4:85149..4596207 [GRCh38]
Chr4:85040..4597934 [GRCh37]
Chr4:75040..4648835 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 copy number gain See cases [RCV000051754] Chr4:72555..5607083 [GRCh38]
Chr4:72447..5608810 [GRCh37]
Chr4:62447..5659711 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] Chr4:2231690..11197847 [GRCh38]
Chr4:2233417..11199471 [GRCh37]
Chr4:2203215..10808569 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 copy number loss See cases [RCV000051671] Chr4:72555..5034991 [GRCh38]
Chr4:72447..5036718 [GRCh37]
Chr4:62447..5087619 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x3 copy number gain See cases [RCV000051675] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|See cases [RCV000051676] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 copy number loss See cases [RCV000051677] Chr4:72555..5212384 [GRCh38]
Chr4:72447..5214111 [GRCh37]
Chr4:62447..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3785385)x1 copy number loss See cases [RCV000051644] Chr4:72555..3785385 [GRCh38]
Chr4:72447..3787112 [GRCh37]
Chr4:62447..3756910 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3206313)x1 copy number loss See cases [RCV000051645] Chr4:72555..3206313 [GRCh38]
Chr4:72447..3208040 [GRCh37]
Chr4:62447..3177838 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3460958)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|See cases [RCV000051646] Chr4:72555..3460958 [GRCh38]
Chr4:72447..3462685 [GRCh37]
Chr4:62447..3432483 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-4405782)x1 copy number loss See cases [RCV000051681] Chr4:85149..4405782 [GRCh38]
Chr4:85040..4407509 [GRCh37]
Chr4:75040..4458410 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1598653-4722090)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|See cases [RCV000053396] Chr4:1598653..4722090 [GRCh38]
Chr4:1600380..4723817 [GRCh37]
Chr4:1570340..4774718 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 copy number loss See cases [RCV000133846] Chr4:72555..5344810 [GRCh38]
Chr4:72447..5346537 [GRCh37]
Chr4:62447..5397438 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:78578-3363219)x1 copy number loss See cases [RCV000135317] Chr4:78578..3363219 [GRCh38]
Chr4:78470..3364946 [GRCh37]
Chr4:68470..3334744 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:37335-3775112)x1 copy number loss See cases [RCV000134785] Chr4:37335..3775112 [GRCh38]
Chr4:37336..3776839 [GRCh37]
Chr4:27336..3746637 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 copy number loss See cases [RCV000135584] Chr4:72555..4888108 [GRCh38]
Chr4:72447..4889835 [GRCh37]
Chr4:62447..4940736 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 copy number loss See cases [RCV000136572] Chr4:72555..6243425 [GRCh38]
Chr4:72447..6245152 [GRCh37]
Chr4:62447..6296053 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-4358718)x1 copy number loss See cases [RCV000136844] Chr4:72555..4358718 [GRCh38]
Chr4:72447..4360445 [GRCh37]
Chr4:62447..4411346 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3724047)x1 copy number loss See cases [RCV000136930] Chr4:72555..3724047 [GRCh38]
Chr4:72447..3725774 [GRCh37]
Chr4:62447..3695572 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3561655)x1 copy number loss See cases [RCV000136730] Chr4:72555..3561655 [GRCh38]
Chr4:72447..3563382 [GRCh37]
Chr4:62447..3533180 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3(chr4:2019774-3881330)x3 copy number gain See cases [RCV000138129] Chr4:2019774..3881330 [GRCh38]
Chr4:2021501..3883057 [GRCh37]
Chr4:1991299..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-4097002)x3 copy number gain See cases [RCV000139432] Chr4:36424..4097002 [GRCh38]
Chr4:36424..4098729 [GRCh37]
Chr4:26424..4149630 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3974044)x1 copy number loss See cases [RCV000139441] Chr4:36424..3974044 [GRCh38]
Chr4:36424..3975771 [GRCh37]
Chr4:26424..4026672 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3265531)x1 copy number loss See cases [RCV000139019] Chr4:36424..3265531 [GRCh38]
Chr4:36424..3267258 [GRCh37]
Chr4:26424..3237056 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1 copy number loss See cases [RCV000141940] Chr4:1964539..5912172 [GRCh38]
Chr4:1966266..5913899 [GRCh37]
Chr4:1936064..5964800 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3(chr4:2007739-3078685)x1 copy number loss See cases [RCV000142330] Chr4:2007739..3078685 [GRCh38]
Chr4:2009466..3080412 [GRCh37]
Chr4:1979264..3050210 [NCBI36]
Chr4:4p16.3		 likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2689579)x1 copy number loss See cases [RCV000143324] Chr4:72555..2689579 [GRCh38]
Chr4:72447..2691306 [GRCh37]
Chr4:62447..2661104 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3881330)x1 copy number loss See cases [RCV000143247] Chr4:36424..3881330 [GRCh38]
Chr4:36424..3883057 [GRCh37]
Chr4:26424..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 copy number loss See cases [RCV000143547] Chr4:68453..6055026 [GRCh38]
Chr4:68345..6056753 [GRCh37]
Chr4:58345..6107654 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2502977)x1 copy number loss See cases [RCV000449010] Chr4:68345..2502977 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3713599)x3 copy number gain See cases [RCV000512063] Chr4:68345..3713599 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4044985)x1 copy number loss See cases [RCV000510596] Chr4:68345..4044985 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1 copy number loss See cases [RCV000511691] Chr4:68345..5319773 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3891984)x1 copy number loss See cases [RCV000512438] Chr4:68345..3891984 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:1998507-2986076)x3 copy number gain not provided [RCV000682369] Chr4:1998507..2986076 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.2(chr4:2364201-5447465)x1 copy number loss not provided [RCV000682370] Chr4:2364201..5447465 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:2175733-2917646)x1 copy number loss not provided [RCV000743221] Chr4:2175733..2917646 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NC_000004.12:g.(?_2059492)_(2833854_?)del deletion Fibrous dysplasia of jaw [RCV001033381] Chr4:2061219..2835581 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:2370120-2520848)x1 copy number loss not provided [RCV000849914] Chr4:2370120..2520848 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-4051616)x3 copy number gain not provided [RCV000847002] Chr4:68345..4051616 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:2479812-2704300)x3 copy number gain not provided [RCV001005518] Chr4:2479812..2704300 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_002938.5(RNF4):c.70A>C (p.Thr24Pro) single nucleotide variant not specified [RCV004308211] Chr4:2497067 [GRCh38]
Chr4:2498794 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:963688-2913553)x3 copy number gain not provided [RCV002473933] Chr4:963688..2913553 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 copy number loss not provided [RCV002473869] Chr4:68346..12369983 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2786584)x1 copy number loss not provided [RCV001005508] Chr4:68345..2786584 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2503033)x3 copy number gain not provided [RCV001258635] Chr4:68345..2503033 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:1941633-3879802)x1 copy number loss not provided [RCV001258633] Chr4:1941633..3879802 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1 copy number loss not provided [RCV001258644] Chr4:68345..5831521 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1 copy number loss not provided [RCV001258643] Chr4:68345..5046326 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:388344-3872380) copy number loss Fetal growth restriction [RCV001352672] Chr4:388344..3872380 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NC_000004.11:g.(?_2200251)_(5710240_?)del deletion Ellis-van Creveld syndrome [RCV001386270] Chr4:2200251..5710240 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:2479104-2704300)x3 copy number gain not provided [RCV001834270] Chr4:2479104..2704300 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NC_000004.11:g.(?_493125)_(3495228_?)del deletion Fibrous dysplasia of jaw [RCV001943824] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(2886413_?)del deletion Mucopolysaccharidosis type 1 [RCV001960721] Chr4:493125..2886413 [GRCh37]
Chr4:4p16.3		 pathogenic
NC_000004.11:g.(?_493125)_(3495228_?)dup duplication Fibrous dysplasia of jaw [RCV003113187] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_002938.5(RNF4):c.365C>T (p.Thr122Ile) single nucleotide variant not specified [RCV004322921] Chr4:2512588 [GRCh38]
Chr4:2514315 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1 copy number loss See cases [RCV002286339] Chr4:68345..5579467 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 copy number loss not provided [RCV002473938] Chr4:1..12785001 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3(chr4:2195665-2503033)x3 copy number gain not provided [RCV002474710] Chr4:2195665..2503033 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:1892740-2503033)x3 copy number gain not provided [RCV002473658] Chr4:1892740..2503033 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_002938.5(RNF4):c.343A>C (p.Asn115His) single nucleotide variant not specified [RCV004170766] Chr4:2512566 [GRCh38]
Chr4:2514293 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_002938.5(RNF4):c.234G>T (p.Arg78Ser) single nucleotide variant not specified [RCV004201585] Chr4:2512457 [GRCh38]
Chr4:2514184 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_002938.5(RNF4):c.305G>A (p.Arg102Lys) single nucleotide variant not specified [RCV004223754] Chr4:2512528 [GRCh38]
Chr4:2514255 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_002938.5(RNF4):c.74C>T (p.Ser25Phe) single nucleotide variant not specified [RCV004222036] Chr4:2497071 [GRCh38]
Chr4:2498798 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_002938.5(RNF4):c.47C>T (p.Ala16Val) single nucleotide variant not specified [RCV004096812] Chr4:2497044 [GRCh38]
Chr4:2498771 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 copy number loss not provided [RCV003334269] Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_002938.5(RNF4):c.296A>T (p.Glu99Val) single nucleotide variant not specified [RCV004358023] Chr4:2512519 [GRCh38]
Chr4:2514246 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68346-2681414)x1 copy number loss not provided [RCV003485406] Chr4:68346..2681414 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3 copy number gain not provided [RCV003484164] Chr4:68346..7171784 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:1497034-2571696)x4 copy number gain not provided [RCV003485344] Chr4:1497034..2571696 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1 copy number loss not specified [RCV003986508] Chr4:68345..4611819 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 copy number loss not specified [RCV003986510] Chr4:68345..14083766 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3510024)x1 copy number loss not specified [RCV003986499] Chr4:68345..3510024 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:68346-3122209)x1 copy number loss not specified [RCV003986538] Chr4:68346..3122209 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1 copy number loss not specified [RCV003986500] Chr4:68345..7923907 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 copy number loss not provided [RCV003885506] Chr4:85622..13316942 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NC_000004.11:g.(?_2357152)_(15176083_?)del deletion not provided [RCV004580846] Chr4:2357152..15176083 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NC_000004.11:g.(?_1795662)_(3495228_?)dup duplication not provided [RCV004580808] Chr4:1795662..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_1795662)_(3495228_?)del deletion not provided [RCV004580832] Chr4:1795662..3495228 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_002938.5(RNF4):c.91T>G (p.Leu31Val) single nucleotide variant not specified [RCV004672158] Chr4:2497088 [GRCh38]
Chr4:2498815 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_002938.5(RNF4):c.506A>G (p.Asn169Ser) single nucleotide variant not specified [RCV004665523] Chr4:2513752 [GRCh38]
Chr4:2515479 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_002938.5(RNF4):c.289G>A (p.Asp97Asn) single nucleotide variant not specified [RCV004665524] Chr4:2512512 [GRCh38]
Chr4:2514239 [GRCh37]
Chr4:4p16.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8646
Count of miRNA genes:1224
Interacting mature miRNAs:1543
Transcripts:ENST00000314289, ENST00000502316, ENST00000503123, ENST00000503659, ENST00000504224, ENST00000504782, ENST00000506706, ENST00000507247, ENST00000507784, ENST00000508235, ENST00000509206, ENST00000509258, ENST00000509388, ENST00000511600, ENST00000511843, ENST00000511859, ENST00000511892, ENST00000513284, ENST00000513450, ENST00000513578, ENST00000513643, ENST00000541204
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407140488GWAS789464_Hcoronary artery calcification QTL GWAS789464 (human)0.000002coronary artery calcification424838882483889Human

Markers in Region
RH64880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371231,159,777 - 231,159,913UniSTSGRCh37
GRCh3742,517,410 - 2,517,546UniSTSGRCh37
Build 361229,226,400 - 229,226,536RGDNCBI36
Celera1204,426,367 - 204,426,503RGD
Celera42,428,489 - 2,428,625UniSTS
Cytogenetic Map1q42.2UniSTS
Cytogenetic Map4p16.3UniSTS
HuRef1201,643,725 - 201,643,861UniSTS
HuRef42,457,216 - 2,457,352UniSTS
RH64743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371231,159,540 - 231,159,638UniSTSGRCh37
GRCh3742,517,176 - 2,517,274UniSTSGRCh37
Build 361229,226,163 - 229,226,261RGDNCBI36
Celera1204,426,130 - 204,426,228RGD
Celera42,428,255 - 2,428,353UniSTS
Cytogenetic Map1q42.2UniSTS
Cytogenetic Map4p16.3UniSTS
HuRef1201,643,488 - 201,643,586UniSTS
HuRef42,456,982 - 2,457,080UniSTS
RH65312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371231,158,411 - 231,158,551UniSTSGRCh37
GRCh3742,516,038 - 2,516,180UniSTSGRCh37
Build 361229,225,034 - 229,225,174RGDNCBI36
Celera1204,424,998 - 204,425,138RGD
Celera42,427,118 - 2,427,260UniSTS
Cytogenetic Map1q42.2UniSTS
Cytogenetic Map4p16.3UniSTS
HuRef1201,642,359 - 201,642,499UniSTS
HuRef42,455,844 - 2,455,986UniSTS
D4S2764E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,517,347 - 2,517,426UniSTSGRCh37
Build 3642,487,145 - 2,487,224RGDNCBI36
Celera42,428,426 - 2,428,505RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,457,153 - 2,457,232UniSTS
D4S816E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371231,159,779 - 231,159,925UniSTSGRCh37
GRCh3742,517,412 - 2,517,558UniSTSGRCh37
Build 361229,226,402 - 229,226,548RGDNCBI36
Celera1204,426,369 - 204,426,515RGD
Celera42,428,491 - 2,428,637UniSTS
Cytogenetic Map1q42.2UniSTS
Cytogenetic Map4p16.3UniSTS
HuRef1201,643,727 - 201,643,873UniSTS
HuRef42,457,218 - 2,457,364UniSTS
Cda0fc06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,517,421 - 2,517,557UniSTSGRCh37
GRCh371231,159,788 - 231,159,924UniSTSGRCh37
Build 361229,226,411 - 229,226,547RGDNCBI36
Celera42,428,500 - 2,428,636UniSTS
Celera1204,426,378 - 204,426,514RGD
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1q42.2UniSTS
HuRef42,457,227 - 2,457,363UniSTS
HuRef1201,643,736 - 201,643,872UniSTS
GeneMap99-G3 RH Map4206.0UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001185009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001185010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB000468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL645924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU682428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX322586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB993989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA342512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB064628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U95140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000314289   ⟹   ENSP00000315212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,469,106 - 2,515,857 (+)Ensembl
Ensembl Acc Id: ENST00000502316   ⟹   ENSP00000423100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,469,097 - 2,513,811 (+)Ensembl
Ensembl Acc Id: ENST00000503123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,469,181 - 2,497,103 (+)Ensembl
Ensembl Acc Id: ENST00000503659   ⟹   ENSP00000423186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,462,220 - 2,497,012 (+)Ensembl
Ensembl Acc Id: ENST00000504224   ⟹   ENSP00000425667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,468,729 - 2,500,738 (+)Ensembl
Ensembl Acc Id: ENST00000504782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,469,107 - 2,490,798 (+)Ensembl
Ensembl Acc Id: ENST00000506706   ⟹   ENSP00000424076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,469,453 - 2,514,474 (+)Ensembl
Ensembl Acc Id: ENST00000507247   ⟹   ENSP00000422728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,469,105 - 2,513,711 (+)Ensembl
Ensembl Acc Id: ENST00000507784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,469,137 - 2,497,300 (+)Ensembl
Ensembl Acc Id: ENST00000508235   ⟹   ENSP00000427212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,512,477 - 2,625,320 (+)Ensembl
Ensembl Acc Id: ENST00000509206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,469,194 - 2,497,079 (+)Ensembl
Ensembl Acc Id: ENST00000509258   ⟹   ENSP00000422500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,469,106 - 2,512,334 (+)Ensembl
Ensembl Acc Id: ENST00000509388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,469,104 - 2,513,131 (+)Ensembl
Ensembl Acc Id: ENST00000511600   ⟹   ENSP00000426503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,479,853 - 2,515,854 (+)Ensembl
Ensembl Acc Id: ENST00000511843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,469,106 - 2,512,590 (+)Ensembl
Ensembl Acc Id: ENST00000511859   ⟹   ENSP00000426615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,469,140 - 2,514,503 (+)Ensembl
Ensembl Acc Id: ENST00000511892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,469,140 - 2,497,079 (+)Ensembl
Ensembl Acc Id: ENST00000513284   ⟹   ENSP00000425724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,469,107 - 2,512,511 (+)Ensembl
Ensembl Acc Id: ENST00000513450   ⟹   ENSP00000422619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,489,811 - 2,500,698 (+)Ensembl
Ensembl Acc Id: ENST00000513578   ⟹   ENSP00000422938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,469,139 - 2,500,748 (+)Ensembl
Ensembl Acc Id: ENST00000513643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,469,159 - 2,512,597 (+)Ensembl
Ensembl Acc Id: ENST00000541204   ⟹   ENSP00000446369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,469,068 - 2,515,854 (+)Ensembl
RefSeq Acc Id: NM_001185009   ⟹   NP_001171938
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,469,453 - 2,515,857 (+)NCBI
GRCh3742,470,795 - 2,517,586 (+)ENTREZGENE
HuRef42,410,726 - 2,457,392 (+)ENTREZGENE
CHM1_142,469,336 - 2,515,567 (+)NCBI
T2T-CHM13v2.042,468,211 - 2,514,631 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001185010   ⟹   NP_001171939
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,469,106 - 2,515,857 (+)NCBI
GRCh3742,470,795 - 2,517,586 (+)ENTREZGENE
HuRef42,410,726 - 2,457,392 (+)ENTREZGENE
CHM1_142,468,951 - 2,515,567 (+)NCBI
T2T-CHM13v2.042,467,864 - 2,514,631 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002938   ⟹   NP_002929
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,469,106 - 2,515,857 (+)NCBI
GRCh3742,470,795 - 2,517,586 (+)ENTREZGENE
Build 3642,440,605 - 2,487,382 (+)NCBI Archive
HuRef42,410,726 - 2,457,392 (+)ENTREZGENE
CHM1_142,468,951 - 2,515,567 (+)NCBI
T2T-CHM13v2.042,467,864 - 2,514,631 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416062   ⟹   XP_047272018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,469,106 - 2,515,857 (+)NCBI
RefSeq Acc Id: XM_054350694   ⟹   XP_054206669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.042,467,864 - 2,514,631 (+)NCBI
RefSeq Acc Id: NP_002929   ⟸   NM_002938
- Peptide Label: isoform 1
- UniProtKB: D6RF58 (UniProtKB/Swiss-Prot),   B2R6D6 (UniProtKB/Swiss-Prot),   Q49AR8 (UniProtKB/Swiss-Prot),   P78317 (UniProtKB/Swiss-Prot),   D6RA71 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171939   ⟸   NM_001185010
- Peptide Label: isoform 2
- UniProtKB: D6RAD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171938   ⟸   NM_001185009
- Peptide Label: isoform 1
- UniProtKB: D6RF58 (UniProtKB/Swiss-Prot),   B2R6D6 (UniProtKB/Swiss-Prot),   Q49AR8 (UniProtKB/Swiss-Prot),   P78317 (UniProtKB/Swiss-Prot),   D6RA71 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000446369   ⟸   ENST00000541204
Ensembl Acc Id: ENSP00000423100   ⟸   ENST00000502316
Ensembl Acc Id: ENSP00000423186   ⟸   ENST00000503659
Ensembl Acc Id: ENSP00000425667   ⟸   ENST00000504224
Ensembl Acc Id: ENSP00000424076   ⟸   ENST00000506706
Ensembl Acc Id: ENSP00000422728   ⟸   ENST00000507247
Ensembl Acc Id: ENSP00000427212   ⟸   ENST00000508235
Ensembl Acc Id: ENSP00000422500   ⟸   ENST00000509258
Ensembl Acc Id: ENSP00000315212   ⟸   ENST00000314289
Ensembl Acc Id: ENSP00000426615   ⟸   ENST00000511859
Ensembl Acc Id: ENSP00000426503   ⟸   ENST00000511600
Ensembl Acc Id: ENSP00000425724   ⟸   ENST00000513284
Ensembl Acc Id: ENSP00000422938   ⟸   ENST00000513578
Ensembl Acc Id: ENSP00000422619   ⟸   ENST00000513450
RefSeq Acc Id: XP_047272018   ⟸   XM_047416062
- Peptide Label: isoform X1
- UniProtKB: P78317 (UniProtKB/Swiss-Prot),   D6RF58 (UniProtKB/Swiss-Prot),   B2R6D6 (UniProtKB/Swiss-Prot),   Q49AR8 (UniProtKB/Swiss-Prot),   D6RA71 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054206669   ⟸   XM_054350694
- Peptide Label: isoform X1
- UniProtKB: P78317 (UniProtKB/Swiss-Prot),   D6RF58 (UniProtKB/Swiss-Prot),   B2R6D6 (UniProtKB/Swiss-Prot),   Q49AR8 (UniProtKB/Swiss-Prot),   D6RA71 (UniProtKB/TrEMBL)
Protein Domains
RING-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P78317-F1-model_v2 AlphaFold P78317 1-190 view protein structure

Promoters
RGD ID:6802571
Promoter ID:HG_KWN:47708
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000314289,   NM_002938,   UC003GFC.1,   UC010ICI.1,   UC010ICJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3642,440,196 - 2,441,347 (+)MPROMDB
RGD ID:6851830
Promoter ID:EP73720
Type:initiation region
Name:HS_RNF4
Description:Ring finger protein 4.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 3642,440,631 - 2,440,691EPD
RGD ID:6866888
Promoter ID:EPDNEW_H6609
Type:initiation region
Name:RNF4_1
Description:ring finger protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,469,120 - 2,469,180EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10067 AgrOrtholog
COSMIC RNF4 COSMIC
Ensembl Genes ENSG00000063978 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000314289 ENTREZGENE
  ENST00000314289.13 UniProtKB/Swiss-Prot
  ENST00000502316.5 UniProtKB/TrEMBL
  ENST00000504224.5 UniProtKB/TrEMBL
  ENST00000506706 ENTREZGENE
  ENST00000506706.5 UniProtKB/Swiss-Prot
  ENST00000507247.5 UniProtKB/TrEMBL
  ENST00000509258.5 UniProtKB/TrEMBL
  ENST00000511600.5 UniProtKB/Swiss-Prot
  ENST00000511859.5 UniProtKB/Swiss-Prot
  ENST00000513450.1 UniProtKB/TrEMBL
  ENST00000513578.5 UniProtKB/TrEMBL
  ENST00000541204 ENTREZGENE
  ENST00000541204.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000063978 GTEx
HGNC ID HGNC:10067 ENTREZGENE
Human Proteome Map RNF4 Human Proteome Map
InterPro RING-HC_RNF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNF4-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6047 UniProtKB/Swiss-Prot
NCBI Gene 6047 ENTREZGENE
OMIM 602850 OMIM
PANTHER E3 UBIQUITIN-PROTEIN LIGASE RNF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RING FINGER DOMAIN-CONTAINING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-RING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34439 PharmGKB
PROSITE ZF_RING_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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 B2R6D6 ENTREZGENE
  D6R9E0_HUMAN UniProtKB/TrEMBL
  D6RA71 ENTREZGENE, UniProtKB/TrEMBL
  D6RAD8 ENTREZGENE, UniProtKB/TrEMBL
  D6RBQ7_HUMAN UniProtKB/TrEMBL
  D6RBZ1_HUMAN UniProtKB/TrEMBL
  D6RF58 ENTREZGENE
  D6RJF5_HUMAN UniProtKB/TrEMBL
  P78317 ENTREZGENE
  Q49AR8 ENTREZGENE
  RNF4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R6D6 UniProtKB/Swiss-Prot
  D6RF58 UniProtKB/Swiss-Prot
  Q49AR8 UniProtKB/Swiss-Prot