RNF216 (ring finger protein 216) - Rat Genome Database

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Gene: RNF216 (ring finger protein 216) Homo sapiens
Analyze
Symbol: RNF216
Name: ring finger protein 216
RGD ID: 1604006
HGNC Page HGNC:21698
Description: Enables ubiquitin protein ligase activity. Involved in several processes, including protein K48-linked ubiquitination; regulation of defense response to virus by host; and regulation of interferon-beta production. Located in cytosol and nucleoplasm. Implicated in Gordon Holmes syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CAHH; E3 ubiquitin-protein ligase RNF216; RING-type E3 ubiquitin transferase RNF216; triad domain-containing protein 3; TRIAD3; U7I1; UBCE7IP1; ubiquitin conjugating enzyme 7 interacting protein 1; ubiquitin-conjugating enzyme 7-interacting protein 1; ZIN; zinc finger protein inhibiting NF-kappa-B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: RNF216P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3875,620,047 - 5,781,663 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl75,620,047 - 5,781,696 (-)EnsemblGRCh38hg38GRCh38
GRCh3775,659,678 - 5,821,294 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3675,626,204 - 5,787,818 (-)NCBINCBI36Build 36hg18NCBI36
Celera75,619,295 - 5,780,893 (-)NCBICelera
Cytogenetic Map7p22.1NCBI
HuRef75,571,731 - 5,733,450 (-)NCBIHuRef
CHM1_175,659,283 - 5,820,961 (-)NCBICHM1_1
T2T-CHM13v2.075,737,579 - 5,899,098 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v275,706,017 - 5,867,706 (-)NCBI
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
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8076819   PMID:8889548   PMID:10422847   PMID:10527689   PMID:11076863   PMID:11230166   PMID:11256614   PMID:11854271   PMID:12477932   PMID:12600646   PMID:12853948   PMID:14702039  
PMID:15107846   PMID:15231748   PMID:15367624   PMID:15489334   PMID:15489336   PMID:16169070   PMID:16341674   PMID:16381901   PMID:16968706   PMID:18029348   PMID:18854154   PMID:19149577  
PMID:19690434   PMID:19893624   PMID:19913121   PMID:20301317   PMID:20628086   PMID:21270397   PMID:22658674   PMID:22990118   PMID:23656588   PMID:24945773   PMID:25299038   PMID:25484083  
PMID:25841028   PMID:26673895   PMID:27026194   PMID:27203674   PMID:27995769   PMID:29117863   PMID:29180619   PMID:29311602   PMID:29361549   PMID:29507755   PMID:29643511   PMID:29740218  
PMID:30649198   PMID:31087003   PMID:31385713   PMID:32296183   PMID:33724554   PMID:33961781   PMID:34247365   PMID:34998453   PMID:35088240   PMID:35914814   PMID:36631489   PMID:36880596  
PMID:37439148   PMID:37689310  


Genomics

Comparative Map Data
RNF216
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3875,620,047 - 5,781,663 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl75,620,047 - 5,781,696 (-)EnsemblGRCh38hg38GRCh38
GRCh3775,659,678 - 5,821,294 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3675,626,204 - 5,787,818 (-)NCBINCBI36Build 36hg18NCBI36
Celera75,619,295 - 5,780,893 (-)NCBICelera
Cytogenetic Map7p22.1NCBI
HuRef75,571,731 - 5,733,450 (-)NCBIHuRef
CHM1_175,659,283 - 5,820,961 (-)NCBICHM1_1
T2T-CHM13v2.075,737,579 - 5,899,098 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v275,706,017 - 5,867,706 (-)NCBI
Rnf216
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395142,976,648 - 143,098,793 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5142,976,648 - 143,098,749 (-)EnsemblGRCm39 Ensembl
GRCm385142,990,893 - 143,113,041 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5142,990,893 - 143,112,994 (-)EnsemblGRCm38mm10GRCm38
MGSCv375143,752,572 - 143,874,673 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365143,256,033 - 143,378,134 (-)NCBIMGSCv36mm8
Celera5140,039,423 - 140,158,416 (-)NCBICelera
Cytogenetic Map5G2NCBI
cM Map581.86NCBI
Rnf216
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81216,568,327 - 16,689,868 (+)NCBIGRCr8
mRatBN7.21211,454,752 - 11,576,305 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1211,454,797 - 11,576,304 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1212,263,009 - 12,386,275 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01212,886,286 - 13,009,554 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01211,912,387 - 12,035,725 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01213,508,429 - 13,631,689 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1213,508,429 - 13,632,304 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01215,547,724 - 15,668,304 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41211,850,549 - 11,968,127 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1213,249,412 - 13,370,214 (+)NCBICelera
Cytogenetic Map12p11NCBI
Rnf216
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546010,425,885 - 10,551,295 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546010,423,736 - 10,578,421 (-)NCBIChiLan1.0ChiLan1.0
RNF216
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2610,579,755 - 10,746,674 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1758,904,460 - 59,071,382 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v075,872,118 - 6,037,073 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.175,891,909 - 6,051,979 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl75,891,909 - 6,051,979 (-)Ensemblpanpan1.1panPan2
RNF216
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1612,185,870 - 12,347,461 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl612,185,846 - 12,361,869 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha613,690,975 - 13,819,412 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0612,279,451 - 12,440,387 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl612,279,466 - 12,483,247 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1612,133,461 - 12,294,697 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0612,067,337 - 12,228,144 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0612,343,974 - 12,505,522 (+)NCBIUU_Cfam_GSD_1.0
Rnf216
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344140,441,068 - 140,601,298 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936765473,025 - 589,681 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936765452,755 - 592,358 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RNF216
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl34,158,450 - 4,329,378 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.134,158,447 - 4,329,458 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.234,800,772 - 4,820,346 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RNF216
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12815,955,499 - 16,114,307 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2815,954,803 - 16,117,759 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660905,879,677 - 6,041,644 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rnf216
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474027,885,778 - 28,024,710 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474027,861,094 - 28,024,619 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RNF216
235 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_207111.4(RNF216):c.2251C>T (p.Arg751Cys) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV000043627] Chr7:5641285 [GRCh38]
Chr7:5680916 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_207111.4(RNF216):c.1791T>A (p.Cys597Ter) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV000043628] Chr7:5715095 [GRCh38]
Chr7:5754726 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_207111.4(RNF216):c.615_616del (p.Glu205fs) microsatellite Cerebellar ataxia-hypogonadism syndrome [RCV000043629] Chr7:5741401..5741402 [GRCh38]
Chr7:5781032..5781033 [GRCh37]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1 copy number loss See cases [RCV000052256] Chr7:5062000..6692258 [GRCh38]
Chr7:5101631..6731889 [GRCh37]
Chr7:5068157..6698414 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:5062000-5825183)x1 copy number loss See cases [RCV000052263] Chr7:5062000..5825183 [GRCh38]
Chr7:5101631..5864814 [GRCh37]
Chr7:5068157..5831340 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:5117519-5880375)x1 copy number loss See cases [RCV000052266] Chr7:5117519..5880375 [GRCh38]
Chr7:5157150..5920006 [GRCh37]
Chr7:5123676..5886532 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:5331115-6031221)x1 copy number loss See cases [RCV000052268] Chr7:5331115..6031221 [GRCh38]
Chr7:5370746..6070852 [GRCh37]
Chr7:5337272..6037378 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3 copy number gain See cases [RCV000053408] Chr7:4876621..6492003 [GRCh38]
Chr7:4916252..6531634 [GRCh37]
Chr7:4882778..6498159 [NCBI36]
Chr7:7p22.1		 uncertain significance
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
NM_207111.4(RNF216):c.1170C>T (p.Asp390=) single nucleotide variant not specified [RCV000118188] Chr7:5730769 [GRCh38]
Chr7:5770400 [GRCh37]
Chr7:7p22.1		 benign|likely benign
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.1(chr7:5448387-6276950)x1 copy number loss See cases [RCV000135830] Chr7:5448387..6276950 [GRCh38]
Chr7:5488018..6316581 [GRCh37]
Chr7:5454544..6283106 [NCBI36]
Chr7:7p22.1		 likely pathogenic|benign
GRCh38/hg38 7p22.1(chr7:5578185-5775451)x1 copy number loss See cases [RCV000135626] Chr7:5578185..5775451 [GRCh38]
Chr7:5617816..5815082 [GRCh37]
Chr7:5584342..5781608 [NCBI36]
Chr7:7p22.1		 likely pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 copy number gain See cases [RCV000136649] Chr7:5682209..27230311 [GRCh38]
Chr7:5721840..27269930 [GRCh37]
Chr7:5688366..27236455 [NCBI36]
Chr7:7p22.1-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3 copy number gain See cases [RCV000137977] Chr7:4849987..5760088 [GRCh38]
Chr7:4889618..5799719 [GRCh37]
Chr7:4856144..5766245 [NCBI36]
Chr7:7p22.1		 likely pathogenic
GRCh38/hg38 7p22.1(chr7:5331115-6340621)x3 copy number gain See cases [RCV000138729] Chr7:5331115..6340621 [GRCh38]
Chr7:5370746..6380252 [GRCh37]
Chr7:5337272..6346777 [NCBI36]
Chr7:7p22.1		 uncertain significance
GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3 copy number gain See cases [RCV000139037] Chr7:5331115..6751518 [GRCh38]
Chr7:5370746..6791149 [GRCh37]
Chr7:5337272..6757674 [NCBI36]
Chr7:7p22.1		 likely pathogenic
GRCh38/hg38 7p22.1(chr7:5378314-5849934)x4 copy number gain See cases [RCV000139038] Chr7:5378314..5849934 [GRCh38]
Chr7:5417945..5889565 [GRCh37]
Chr7:5384471..5856091 [NCBI36]
Chr7:7p22.1		 likely pathogenic
GRCh38/hg38 7p22.1(chr7:5171797-5635439)x3 copy number gain See cases [RCV000140259] Chr7:5171797..5635439 [GRCh38]
Chr7:5211428..5675070 [GRCh37]
Chr7:5177954..5641596 [NCBI36]
Chr7:7p22.1		 uncertain significance
GRCh38/hg38 7p22.1(chr7:5635439-5883795)x3 copy number gain See cases [RCV000140685] Chr7:5635439..5883795 [GRCh38]
Chr7:5675070..5923426 [GRCh37]
Chr7:5641596..5889952 [NCBI36]
Chr7:7p22.1		 likely benign
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
NM_207111.4(RNF216):c.2061G>A (p.Lys687=) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000162188] Chr7:5711761 [GRCh38]
Chr7:5751392 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_207111.4(RNF216):c.201A>G (p.Glu67=) single nucleotide variant not specified [RCV000192967] Chr7:5752846 [GRCh38]
Chr7:5792477 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1367G>A (p.Gly456Glu) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV000180793] Chr7:5729454 [GRCh38]
Chr7:5769085 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_207111.4(RNF216):c.904C>T (p.Gln302Ter) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV000180794] Chr7:5741113 [GRCh38]
Chr7:5780744 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_207111.4(RNF216):c.1616A>G (p.Tyr539Cys) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV000180795] Chr7:5721061 [GRCh38]
Chr7:5760692 [GRCh37]
Chr7:7p22.1		 pathogenic|uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3 copy number gain See cases [RCV000515563] Chr7:2789546..9066894 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:5770346-5770448)x3 copy number gain not provided [RCV003312705] Chr7:5770346..5770448 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:5816851-5950019)x1 copy number loss See cases [RCV000449157] Chr7:5816851..5950019 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.1(chr7:5662552-5940027)x1 copy number loss See cases [RCV000447538] Chr7:5662552..5940027 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:5717255-5925847)x3 copy number gain See cases [RCV000447402] Chr7:5717255..5925847 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.1(chr7:5799660-5944692)x3 copy number gain See cases [RCV000448313] Chr7:5799660..5944692 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.1(chr7:5799660-5925847)x3 copy number gain See cases [RCV000448781] Chr7:5799660..5925847 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:4756391-5934779)x3 copy number gain See cases [RCV000448466] Chr7:4756391..5934779 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2468G>A (p.Arg823His) single nucleotide variant Rosette-forming glioneuronal tumor [RCV000487441] Chr7:5623164 [GRCh38]
Chr7:5662795 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5268201-5803877)x3 copy number gain See cases [RCV000510522] Chr7:5268201..5803877 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3 copy number gain See cases [RCV000511909] Chr7:4839046..7110343 [GRCh37]
Chr7:7p22.1		 likely pathogenic
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_207111.4(RNF216):c.1309G>T (p.Ala437Ser) single nucleotide variant Inborn genetic diseases [RCV003258249] Chr7:5729512 [GRCh38]
Chr7:5769143 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:5706398-6052556)x3 copy number gain not provided [RCV000682832] Chr7:5706398..6052556 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5606650-5974130)x3 copy number gain not provided [RCV000682836] Chr7:5606650..5974130 [GRCh37]
Chr7:7p22.1		 likely pathogenic
GRCh37/hg19 7p22.1(chr7:5626053-5934779)x3 copy number gain not provided [RCV000682820] Chr7:5626053..5934779 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5671133-5934779)x3 copy number gain not provided [RCV000682813] Chr7:5671133..5934779 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3 copy number gain not provided [RCV000682900] Chr7:4388620..7302293 [GRCh37]
Chr7:7p22.2-21.3		 pathogenic
NM_207111.4(RNF216):c.202-1G>C single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV000714821] Chr7:5741816 [GRCh38]
Chr7:5781447 [GRCh37]
Chr7:7p22.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:5218459-6319917)x3 copy number gain not provided [RCV000845805] Chr7:5218459..6319917 [GRCh37]
Chr7:7p22.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:5721448-6037168)x3 copy number gain not provided [RCV000746404] Chr7:5721448..6037168 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:5736390-5929666)x3 copy number gain not provided [RCV000746405] Chr7:5736390..5929666 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:5736390-6043319)x3 copy number gain not provided [RCV000746406] Chr7:5736390..6043319 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:5736390-6063674)x3 copy number gain not provided [RCV000746407] Chr7:5736390..6063674 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:5785086-5825588)x3 copy number gain not provided [RCV000746408] Chr7:5785086..5825588 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:5785086-5891221)x3 copy number gain not provided [RCV000746409] Chr7:5785086..5891221 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_207111.4(RNF216):c.2663T>A (p.Val888Glu) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV000985218] Chr7:5622969 [GRCh38]
Chr7:5662600 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2004G>A (p.Pro668=) single nucleotide variant not provided [RCV000900830] Chr7:5711818 [GRCh38]
Chr7:5751449 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2538G>A (p.Pro846=) single nucleotide variant not provided [RCV000970850] Chr7:5623094 [GRCh38]
Chr7:5662725 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_207111.4(RNF216):c.152C>G (p.Pro51Arg) single nucleotide variant not provided [RCV000937495] Chr7:5752895 [GRCh38]
Chr7:5792526 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.807C>T (p.Phe269=) single nucleotide variant not provided [RCV000942905] Chr7:5741210 [GRCh38]
Chr7:5780841 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1504+7C>T single nucleotide variant not provided [RCV000881252] Chr7:5725317 [GRCh38]
Chr7:5764948 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.234C>T (p.Leu78=) single nucleotide variant not provided [RCV000881253] Chr7:5741783 [GRCh38]
Chr7:5781414 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1968C>T (p.Ala656=) single nucleotide variant not provided [RCV000900055] Chr7:5712729 [GRCh38]
Chr7:5752360 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2631A>G (p.Pro877=) single nucleotide variant not provided [RCV000923705] Chr7:5623001 [GRCh38]
Chr7:5662632 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1311C>T (p.Ala437=) single nucleotide variant not provided [RCV000969030] Chr7:5729510 [GRCh38]
Chr7:5769141 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.765G>A (p.Gln255=) single nucleotide variant not provided [RCV000983668] Chr7:5741252 [GRCh38]
Chr7:5780883 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2010G>T (p.Leu670=) single nucleotide variant not provided [RCV000900221] Chr7:5711812 [GRCh38]
Chr7:5751443 [GRCh37]
Chr7:7p22.1		 benign
NM_207111.4(RNF216):c.603C>G (p.Ser201=) single nucleotide variant not provided [RCV000882244] Chr7:5741414 [GRCh38]
Chr7:5781045 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_207111.4(RNF216):c.1389+4C>G single nucleotide variant not provided [RCV001043396] Chr7:5729428 [GRCh38]
Chr7:5769059 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.687G>A (p.Trp229Ter) single nucleotide variant not provided [RCV001043398] Chr7:5741330 [GRCh38]
Chr7:5780961 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_207111.4(RNF216):c.177G>A (p.Leu59=) single nucleotide variant not provided [RCV000946997] Chr7:5752870 [GRCh38]
Chr7:5792501 [GRCh37]
Chr7:7p22.1		 benign
NM_207111.4(RNF216):c.414G>A (p.Gly138=) single nucleotide variant not provided [RCV000905724] Chr7:5741603 [GRCh38]
Chr7:5781234 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1479T>G (p.Ser493=) single nucleotide variant not provided [RCV000914466] Chr7:5725349 [GRCh38]
Chr7:5764980 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.77A>G (p.Asn26Ser) single nucleotide variant RNF216-related condition [RCV003923293]|not provided [RCV000922856] Chr7:5752970 [GRCh38]
Chr7:5792601 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2614G>A (p.Val872Met) single nucleotide variant RNF216-related condition [RCV003943252]|not provided [RCV000975947] Chr7:5623018 [GRCh38]
Chr7:5662649 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2730C>T (p.Asn910=) single nucleotide variant not provided [RCV000969029] Chr7:5622902 [GRCh38]
Chr7:5662533 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.60G>A (p.Arg20=) single nucleotide variant not provided [RCV000906080] Chr7:5761010 [GRCh38]
Chr7:5800641 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.149C>G (p.Ala50Gly) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV002489403]|RNF216-related condition [RCV003905965]|not provided [RCV000969031] Chr7:5752898 [GRCh38]
Chr7:5792529 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_207111.4(RNF216):c.1899G>T (p.Val633=) single nucleotide variant not provided [RCV000894929] Chr7:5712798 [GRCh38]
Chr7:5752429 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2525C>T (p.Pro842Leu) single nucleotide variant not provided [RCV000998763] Chr7:5623107 [GRCh38]
Chr7:5662738 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5749018-6065236)x3 copy number gain not provided [RCV000848039] Chr7:5749018..6065236 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5606650-6185838)x3 copy number gain not provided [RCV000848793] Chr7:5606650..6185838 [GRCh37]
Chr7:7p22.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:5759704-6055929)x3 copy number gain not provided [RCV000848274] Chr7:5759704..6055929 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.445A>C (p.Ser149Arg) single nucleotide variant not provided [RCV000828503] Chr7:5741572 [GRCh38]
Chr7:5781203 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_207111.4(RNF216):c.2757G>A (p.Pro919=) single nucleotide variant not provided [RCV000916547] Chr7:5622875 [GRCh38]
Chr7:5662506 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2686G>T (p.Val896Phe) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV000987817] Chr7:5622946 [GRCh38]
Chr7:5662577 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5749102-6055706)x3 copy number gain not provided [RCV001005899] Chr7:5749102..6055706 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
NM_207111.4(RNF216):c.161A>G (p.His54Arg) single nucleotide variant not provided [RCV000998764] Chr7:5752886 [GRCh38]
Chr7:5792517 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3 copy number gain not provided [RCV001005891] Chr7:1648373..10627513 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_207111.4(RNF216):c.930del (p.Glu310fs) deletion not provided [RCV001009105] Chr7:5741087 [GRCh38]
Chr7:5780718 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_207111.4(RNF216):c.854C>T (p.Ser285Leu) single nucleotide variant RNF216-related condition [RCV003903258]|not provided [RCV000954263] Chr7:5741163 [GRCh38]
Chr7:5780794 [GRCh37]
Chr7:7p22.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_207111.4(RNF216):c.816C>T (p.Pro272=) single nucleotide variant not provided [RCV000958914] Chr7:5741201 [GRCh38]
Chr7:5780832 [GRCh37]
Chr7:7p22.1		 benign
NM_207111.4(RNF216):c.2055C>T (p.Cys685=) single nucleotide variant not provided [RCV000974572] Chr7:5711767 [GRCh38]
Chr7:5751398 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1425G>A (p.Leu475=) single nucleotide variant not provided [RCV000974228] Chr7:5725403 [GRCh38]
Chr7:5765034 [GRCh37]
Chr7:7p22.1		 benign
NM_207111.4(RNF216):c.2686G>A (p.Val896Ile) single nucleotide variant RNF216-related condition [RCV003968343]|not provided [RCV000907503] Chr7:5622946 [GRCh38]
Chr7:5662577 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.368C>T (p.Ala123Val) single nucleotide variant not provided [RCV000916844] Chr7:5741649 [GRCh38]
Chr7:5781280 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2661C>T (p.Tyr887=) single nucleotide variant not provided [RCV000933439] Chr7:5622971 [GRCh38]
Chr7:5662602 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1896G>A (p.Lys632=) single nucleotide variant not provided [RCV000975146] Chr7:5712801 [GRCh38]
Chr7:5752432 [GRCh37]
Chr7:7p22.1		 benign
NM_207111.4(RNF216):c.1929T>C (p.Tyr643=) single nucleotide variant not provided [RCV000913350] Chr7:5712768 [GRCh38]
Chr7:5752399 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1263C>T (p.Thr421=) single nucleotide variant not provided [RCV000913005] Chr7:5729558 [GRCh38]
Chr7:5769189 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.345C>T (p.Asn115=) single nucleotide variant not provided [RCV000891424] Chr7:5741672 [GRCh38]
Chr7:5781303 [GRCh37]
Chr7:7p22.1		 benign
NM_207111.4(RNF216):c.2643G>A (p.Gly881=) single nucleotide variant not provided [RCV000911300] Chr7:5622989 [GRCh38]
Chr7:5662620 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.206A>G (p.Asn69Ser) single nucleotide variant not provided [RCV003106598] Chr7:5741811 [GRCh38]
Chr7:5781442 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5702085-5949898)x1 copy number gain global hypotonia [RCV001004030] Chr7:5702085..5949898 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5692044-5692141) copy number loss Cerebellar ataxia-hypogonadism syndrome [RCV001004095] Chr7:5692044..5692141 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_207111.4(RNF216):c.2061+3A>G single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV001647236] Chr7:5711758 [GRCh38]
Chr7:5751389 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_207111.4(RNF216):c.1849A>G (p.Met617Val) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV001647237] Chr7:5712848 [GRCh38]
Chr7:5752479 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_207111.4(RNF216):c.938C>T (p.Pro313Leu) single nucleotide variant not provided [RCV002001628] Chr7:5741079 [GRCh38]
Chr7:5780710 [GRCh37]
Chr7:7p22.1		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:5676440-5965440)x3 copy number gain not provided [RCV001259433] Chr7:5676440..5965440 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1263C>A (p.Thr421=) single nucleotide variant RNF216-related condition [RCV003900485]|not provided [RCV001433191] Chr7:5729558 [GRCh38]
Chr7:5769189 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.785G>A (p.Arg262His) single nucleotide variant not provided [RCV001371928] Chr7:5741232 [GRCh38]
Chr7:5780863 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1302C>T (p.Leu434=) single nucleotide variant RNF216-related condition [RCV003931060]|not provided [RCV001512361] Chr7:5729519 [GRCh38]
Chr7:5769150 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_207111.4(RNF216):c.984T>A (p.Ile328=) single nucleotide variant not provided [RCV001727393] Chr7:5741033 [GRCh38]
Chr7:5780664 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1988C>T (p.Pro663Leu) single nucleotide variant not provided [RCV001767542] Chr7:5711834 [GRCh38]
Chr7:5751465 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1224+2C>T single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV001783686] Chr7:5730713 [GRCh38]
Chr7:5770344 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_207111.4(RNF216):c.2544C>T (p.Asn848=) single nucleotide variant not provided [RCV001794948] Chr7:5623088 [GRCh38]
Chr7:5662719 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2467C>T (p.Arg823Cys) single nucleotide variant not provided [RCV001756722] Chr7:5623165 [GRCh38]
Chr7:5662796 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2057G>A (p.Arg686Gln) single nucleotide variant not provided [RCV001907964] Chr7:5711765 [GRCh38]
Chr7:5751396 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2252G>A (p.Arg751His) single nucleotide variant not provided [RCV001915325] Chr7:5641284 [GRCh38]
Chr7:5680915 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1460A>G (p.Lys487Arg) single nucleotide variant not provided [RCV001896212] Chr7:5725368 [GRCh38]
Chr7:5764999 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.437C>G (p.Thr146Ser) single nucleotide variant not provided [RCV002045760] Chr7:5741580 [GRCh38]
Chr7:5781211 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2579C>G (p.Ala860Gly) single nucleotide variant not provided [RCV002009239] Chr7:5623053 [GRCh38]
Chr7:5662684 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2047C>T (p.Pro683Ser) single nucleotide variant not provided [RCV002041696] Chr7:5711775 [GRCh38]
Chr7:5751406 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.436A>C (p.Thr146Pro) single nucleotide variant not provided [RCV001893704] Chr7:5741581 [GRCh38]
Chr7:5781212 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1282T>G (p.Phe428Val) single nucleotide variant not provided [RCV001927498] Chr7:5729539 [GRCh38]
Chr7:5769170 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1118A>C (p.Asn373Thr) single nucleotide variant not provided [RCV001872526] Chr7:5739279 [GRCh38]
Chr7:5778910 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2149C>T (p.Arg717Cys) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV001845028] Chr7:5652423 [GRCh38]
Chr7:5692054 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_207111.4(RNF216):c.2759G>A (p.Arg920Gln) single nucleotide variant not provided [RCV001928566] Chr7:5622873 [GRCh38]
Chr7:5662504 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2756C>T (p.Pro919Leu) single nucleotide variant Inborn genetic diseases [RCV003167130]|not provided [RCV001910203] Chr7:5622876 [GRCh38]
Chr7:5662507 [GRCh37]
Chr7:7p22.1		 uncertain significance
NC_000007.13:g.(?_5792457)_(5792630_?)dup duplication not provided [RCV002044409] Chr7:5792457..5792630 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_207111.4(RNF216):c.665A>C (p.Gln222Pro) single nucleotide variant not provided [RCV002041980] Chr7:5741352 [GRCh38]
Chr7:5780983 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1397C>G (p.Ser466Cys) single nucleotide variant not provided [RCV002043871] Chr7:5725431 [GRCh38]
Chr7:5765062 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1895A>G (p.Lys632Arg) single nucleotide variant not provided [RCV001894665] Chr7:5712802 [GRCh38]
Chr7:5752433 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1681G>T (p.Glu561Ter) single nucleotide variant not provided [RCV001891431] Chr7:5716730 [GRCh38]
Chr7:5756361 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_207111.4(RNF216):c.394G>T (p.Gly132Cys) single nucleotide variant not provided [RCV002038058] Chr7:5741623 [GRCh38]
Chr7:5781254 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.298A>G (p.Arg100Gly) single nucleotide variant not provided [RCV001888186] Chr7:5741719 [GRCh38]
Chr7:5781350 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1616A>T (p.Tyr539Phe) single nucleotide variant not provided [RCV001939893] Chr7:5721061 [GRCh38]
Chr7:5760692 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2374G>A (p.Asp792Asn) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV002471183]|not provided [RCV001906203] Chr7:5641162 [GRCh38]
Chr7:5680793 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.293A>G (p.Lys98Arg) single nucleotide variant not provided [RCV001888850] Chr7:5741724 [GRCh38]
Chr7:5781355 [GRCh37]
Chr7:7p22.1		 uncertain significance
NC_000007.13:g.(?_5751372)_(5752514_?)del deletion not provided [RCV001888422] Chr7:5751372..5752514 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.230A>G (p.Asn77Ser) single nucleotide variant not provided [RCV001903622] Chr7:5741787 [GRCh38]
Chr7:5781418 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2084G>A (p.Gly695Glu) single nucleotide variant not provided [RCV002029815] Chr7:5652488 [GRCh38]
Chr7:5692119 [GRCh37]
Chr7:7p22.1		 uncertain significance
NC_000007.13:g.(?_4815347)_(5792630_?)dup duplication Baraitser-Winter syndrome 1 [RCV001978085] Chr7:4815347..5792630 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1568A>G (p.Tyr523Cys) single nucleotide variant not provided [RCV002009466] Chr7:5721109 [GRCh38]
Chr7:5760740 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.971A>G (p.Asn324Ser) single nucleotide variant not provided [RCV001917282] Chr7:5741046 [GRCh38]
Chr7:5780677 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1955C>T (p.Ala652Val) single nucleotide variant not provided [RCV001917603] Chr7:5712742 [GRCh38]
Chr7:5752373 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2182C>T (p.Arg728Cys) single nucleotide variant not provided [RCV001998164] Chr7:5641354 [GRCh38]
Chr7:5680985 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1312G>A (p.Asp438Asn) single nucleotide variant not provided [RCV001919244] Chr7:5729509 [GRCh38]
Chr7:5769140 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.98C>T (p.Thr33Ile) single nucleotide variant not provided [RCV002032945] Chr7:5752949 [GRCh38]
Chr7:5792580 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1738C>G (p.Pro580Ala) single nucleotide variant not provided [RCV001935512] Chr7:5715148 [GRCh38]
Chr7:5754779 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2662G>A (p.Val888Met) single nucleotide variant Inborn genetic diseases [RCV002543458]|not provided [RCV002049898] Chr7:5622970 [GRCh38]
Chr7:5662601 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.337G>C (p.Val113Leu) single nucleotide variant not provided [RCV002047509] Chr7:5741680 [GRCh38]
Chr7:5781311 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2684G>A (p.Arg895Gln) single nucleotide variant Inborn genetic diseases [RCV003264365]|not provided [RCV001994243] Chr7:5622948 [GRCh38]
Chr7:5662579 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.344A>G (p.Asn115Ser) single nucleotide variant not provided [RCV001902405] Chr7:5741673 [GRCh38]
Chr7:5781304 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1343A>T (p.Lys448Met) single nucleotide variant not provided [RCV001989949] Chr7:5729478 [GRCh38]
Chr7:5769109 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1717C>T (p.Arg573Cys) single nucleotide variant not provided [RCV001918623] Chr7:5715169 [GRCh38]
Chr7:5754800 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2692del (p.Tyr898fs) deletion not provided [RCV001915816] Chr7:5622940 [GRCh38]
Chr7:5662571 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.589C>G (p.Gln197Glu) single nucleotide variant not provided [RCV002033290] Chr7:5741428 [GRCh38]
Chr7:5781059 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2683C>T (p.Arg895Trp) single nucleotide variant not provided [RCV001976056] Chr7:5622949 [GRCh38]
Chr7:5662580 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1550G>C (p.Arg517Pro) single nucleotide variant not provided [RCV002048464] Chr7:5721127 [GRCh38]
Chr7:5760758 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2533G>A (p.Val845Ile) single nucleotide variant not provided [RCV002014735] Chr7:5623099 [GRCh38]
Chr7:5662730 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2736C>G (p.Pro912=) single nucleotide variant not provided [RCV002207037] Chr7:5622896 [GRCh38]
Chr7:5662527 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1695+13C>A single nucleotide variant not provided [RCV002170382] Chr7:5716703 [GRCh38]
Chr7:5756334 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1890G>A (p.Leu630=) single nucleotide variant not provided [RCV002145017] Chr7:5712807 [GRCh38]
Chr7:5752438 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.777A>G (p.Glu259=) single nucleotide variant not provided [RCV002085279] Chr7:5741240 [GRCh38]
Chr7:5780871 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1504+7C>G single nucleotide variant not provided [RCV002130325] Chr7:5725317 [GRCh38]
Chr7:5764948 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2052C>T (p.His684=) single nucleotide variant not provided [RCV002090826] Chr7:5711770 [GRCh38]
Chr7:5751401 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1881C>T (p.Thr627=) single nucleotide variant not provided [RCV002194093] Chr7:5712816 [GRCh38]
Chr7:5752447 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2253C>T (p.Arg751=) single nucleotide variant not provided [RCV002216176] Chr7:5641283 [GRCh38]
Chr7:5680914 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2719C>G (p.Leu907Val) single nucleotide variant not provided [RCV002113104] Chr7:5622913 [GRCh38]
Chr7:5662544 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2383-7G>A single nucleotide variant not provided [RCV002194078] Chr7:5624132 [GRCh38]
Chr7:5663763 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.638G>C (p.Gly213Ala) single nucleotide variant RNF216-related condition [RCV003958622]|not provided [RCV002081041] Chr7:5741379 [GRCh38]
Chr7:5781010 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_207111.4(RNF216):c.202-13_202-9del deletion RNF216-related condition [RCV003911309]|not provided [RCV002205669] Chr7:5741824..5741828 [GRCh38]
Chr7:5781455..5781459 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.189C>T (p.Val63=) single nucleotide variant not provided [RCV002096561] Chr7:5752858 [GRCh38]
Chr7:5792489 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2004G>T (p.Pro668=) single nucleotide variant not provided [RCV002094276] Chr7:5711818 [GRCh38]
Chr7:5751449 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1834-13C>T single nucleotide variant not provided [RCV002153843] Chr7:5712876 [GRCh38]
Chr7:5752507 [GRCh37]
Chr7:7p22.1		 benign
NM_207111.4(RNF216):c.1505-13G>A single nucleotide variant not provided [RCV002115792] Chr7:5721185 [GRCh38]
Chr7:5760816 [GRCh37]
Chr7:7p22.1		 benign
NM_207111.4(RNF216):c.2076G>A (p.Lys692=) single nucleotide variant not provided [RCV002096809] Chr7:5652496 [GRCh38]
Chr7:5692127 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1644+6A>C single nucleotide variant not provided [RCV002214426] Chr7:5721027 [GRCh38]
Chr7:5760658 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_207111.4(RNF216):c.108C>G (p.Asp36Glu) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV002221398] Chr7:5752939 [GRCh38]
Chr7:5792570 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1172G>C (p.Arg391Thr) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV002221402] Chr7:5730767 [GRCh38]
Chr7:5770398 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1797C>T (p.Ile599=) single nucleotide variant not provided [RCV002155300] Chr7:5715089 [GRCh38]
Chr7:5754720 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2453-9C>A single nucleotide variant not provided [RCV002218463] Chr7:5623188 [GRCh38]
Chr7:5662819 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2160-7A>G single nucleotide variant not provided [RCV002083966] Chr7:5641383 [GRCh38]
Chr7:5681014 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2592C>T (p.Phe864=) single nucleotide variant not provided [RCV002122913] Chr7:5623040 [GRCh38]
Chr7:5662671 [GRCh37]
Chr7:7p22.1		 benign
NM_207111.4(RNF216):c.2545C>T (p.Leu849=) single nucleotide variant not provided [RCV002103734] Chr7:5623087 [GRCh38]
Chr7:5662718 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1121+9A>G single nucleotide variant not provided [RCV002157373] Chr7:5739267 [GRCh38]
Chr7:5778898 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2062-18T>C single nucleotide variant not provided [RCV002138313] Chr7:5652528 [GRCh38]
Chr7:5692159 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1431A>G (p.Pro477=) single nucleotide variant not provided [RCV002176089] Chr7:5725397 [GRCh38]
Chr7:5765028 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2452+20C>A single nucleotide variant not provided [RCV002161098] Chr7:5624036 [GRCh38]
Chr7:5663667 [GRCh37]
Chr7:7p22.1		 likely benign
NC_000007.13:g.(?_5769043)_(5769247_?)del deletion not provided [RCV003114104] Chr7:5769043..5769247 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2316A>G (p.Gln772=) single nucleotide variant not provided [RCV003115748] Chr7:5641220 [GRCh38]
Chr7:5680851 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_207111.4(RNF216):c.728G>A (p.Arg243His) single nucleotide variant not provided [RCV003121143] Chr7:5741289 [GRCh38]
Chr7:5780920 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2375A>C (p.Asp792Ala) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV002267207] Chr7:5641161 [GRCh38]
Chr7:5680792 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2044A>C (p.Asn682His) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV002267208] Chr7:5711778 [GRCh38]
Chr7:5751409 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 copy number gain See cases [RCV002287567] Chr7:43360..19485604 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
Single allele duplication 7p22.1 microduplication syndrome [RCV002266588] Chr7:5715376..6025454 [GRCh38]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_207111.4(RNF216):c.1306A>C (p.Met436Leu) single nucleotide variant Inborn genetic diseases [RCV003256506] Chr7:5729515 [GRCh38]
Chr7:5769146 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3 copy number gain See cases [RCV002292426] Chr7:43360..9649794 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_207111.4(RNF216):c.986G>A (p.Trp329Ter) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV003153225] Chr7:5741031 [GRCh38]
Chr7:5780662 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_207111.4(RNF216):c.991C>T (p.Gln331Ter) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV002468775] Chr7:5741026 [GRCh38]
Chr7:5780657 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_207111.4(RNF216):c.2680G>C (p.Val894Leu) single nucleotide variant Inborn genetic diseases [RCV002682729] Chr7:5622952 [GRCh38]
Chr7:5662583 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.489C>G (p.Asn163Lys) single nucleotide variant not provided [RCV002995736] Chr7:5741528 [GRCh38]
Chr7:5781159 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5665115-5912855)x3 copy number gain not provided [RCV002475684] Chr7:5665115..5912855 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.745G>T (p.Val249Phe) single nucleotide variant not provided [RCV002795077] Chr7:5741272 [GRCh38]
Chr7:5780903 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.710C>T (p.Ser237Phe) single nucleotide variant Inborn genetic diseases [RCV003250601]|not provided [RCV002882212] Chr7:5741307 [GRCh38]
Chr7:5780938 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1527G>A (p.Arg509=) single nucleotide variant not provided [RCV003076026] Chr7:5721150 [GRCh38]
Chr7:5760781 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.940G>C (p.Ala314Pro) single nucleotide variant Inborn genetic diseases [RCV002752911] Chr7:5741077 [GRCh38]
Chr7:5780708 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2481G>A (p.Pro827=) single nucleotide variant not provided [RCV002994386] Chr7:5623151 [GRCh38]
Chr7:5662782 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2000T>G (p.Phe667Cys) single nucleotide variant Inborn genetic diseases [RCV002817194] Chr7:5711822 [GRCh38]
Chr7:5751453 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.966G>A (p.Glu322=) single nucleotide variant not provided [RCV002862502] Chr7:5741051 [GRCh38]
Chr7:5780682 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.201+10C>T single nucleotide variant not provided [RCV002838845] Chr7:5752836 [GRCh38]
Chr7:5792467 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2075A>C (p.Lys692Thr) single nucleotide variant not provided [RCV003014497] Chr7:5652497 [GRCh38]
Chr7:5692128 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1272C>G (p.Asp424Glu) single nucleotide variant Inborn genetic diseases [RCV002836859] Chr7:5729549 [GRCh38]
Chr7:5769180 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.632A>G (p.Asn211Ser) single nucleotide variant not provided [RCV003095811] Chr7:5741385 [GRCh38]
Chr7:5781016 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1 copy number loss not provided [RCV002475747] Chr7:4655928..5990874 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_207111.4(RNF216):c.621G>C (p.Glu207Asp) single nucleotide variant not provided [RCV002571840] Chr7:5741396 [GRCh38]
Chr7:5781027 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1262C>T (p.Thr421Ile) single nucleotide variant Inborn genetic diseases [RCV002708324] Chr7:5729559 [GRCh38]
Chr7:5769190 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.668C>A (p.Ala223Asp) single nucleotide variant not provided [RCV002662422] Chr7:5741349 [GRCh38]
Chr7:5780980 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1902C>T (p.Leu634=) single nucleotide variant not provided [RCV002706043] Chr7:5712795 [GRCh38]
Chr7:5752426 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.748G>A (p.Val250Ile) single nucleotide variant Inborn genetic diseases [RCV002708264] Chr7:5741269 [GRCh38]
Chr7:5780900 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2402T>C (p.Ile801Thr) single nucleotide variant Inborn genetic diseases [RCV002849614] Chr7:5624106 [GRCh38]
Chr7:5663737 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1834-12G>T single nucleotide variant not provided [RCV002571715] Chr7:5712875 [GRCh38]
Chr7:5752506 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.616A>C (p.Thr206Pro) single nucleotide variant not provided [RCV003079139] Chr7:5741401 [GRCh38]
Chr7:5781032 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1574G>A (p.Arg525Gln) single nucleotide variant Inborn genetic diseases [RCV002953498]|not provided [RCV002953497] Chr7:5721103 [GRCh38]
Chr7:5760734 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2570A>G (p.Tyr857Cys) single nucleotide variant Inborn genetic diseases [RCV002693769] Chr7:5623062 [GRCh38]
Chr7:5662693 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1100A>G (p.Lys367Arg) single nucleotide variant Inborn genetic diseases [RCV002737301] Chr7:5739297 [GRCh38]
Chr7:5778928 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.482G>C (p.Ser161Thr) single nucleotide variant Inborn genetic diseases [RCV002884823] Chr7:5741535 [GRCh38]
Chr7:5781166 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2243T>C (p.Met748Thr) single nucleotide variant Inborn genetic diseases [RCV002911148] Chr7:5641293 [GRCh38]
Chr7:5680924 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1233A>G (p.Lys411=) single nucleotide variant not provided [RCV003002363] Chr7:5729588 [GRCh38]
Chr7:5769219 [GRCh37]
Chr7:7p22.1		 benign
NM_207111.4(RNF216):c.2353T>C (p.Ser785Pro) single nucleotide variant Inborn genetic diseases [RCV002704649] Chr7:5641183 [GRCh38]
Chr7:5680814 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.556C>G (p.Leu186Val) single nucleotide variant not provided [RCV003002382] Chr7:5741461 [GRCh38]
Chr7:5781092 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.624G>A (p.Leu208=) single nucleotide variant not provided [RCV002999410] Chr7:5741393 [GRCh38]
Chr7:5781024 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2579C>T (p.Ala860Val) single nucleotide variant Inborn genetic diseases [RCV002799265] Chr7:5623053 [GRCh38]
Chr7:5662684 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1621C>G (p.Gln541Glu) single nucleotide variant Inborn genetic diseases [RCV003000392] Chr7:5721056 [GRCh38]
Chr7:5760687 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2507A>T (p.Gln836Leu) single nucleotide variant not provided [RCV002711829] Chr7:5623125 [GRCh38]
Chr7:5662756 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.233T>C (p.Leu78Pro) single nucleotide variant Inborn genetic diseases [RCV002893666] Chr7:5741784 [GRCh38]
Chr7:5781415 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.351A>G (p.Pro117=) single nucleotide variant not provided [RCV002573807] Chr7:5741666 [GRCh38]
Chr7:5781297 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.391T>C (p.Tyr131His) single nucleotide variant Inborn genetic diseases [RCV002987189] Chr7:5741626 [GRCh38]
Chr7:5781257 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1255A>G (p.Lys419Glu) single nucleotide variant not provided [RCV002573833] Chr7:5729566 [GRCh38]
Chr7:5769197 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1389+19del deletion not provided [RCV002574969] Chr7:5729413 [GRCh38]
Chr7:5769044 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2379C>T (p.Pro793=) single nucleotide variant not provided [RCV003055911] Chr7:5641157 [GRCh38]
Chr7:5680788 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2158A>G (p.Ile720Val) single nucleotide variant not provided [RCV002633089] Chr7:5652414 [GRCh38]
Chr7:5692045 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.692A>G (p.Asp231Gly) single nucleotide variant Inborn genetic diseases [RCV002813426] Chr7:5741325 [GRCh38]
Chr7:5780956 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.271T>C (p.Leu91=) single nucleotide variant not provided [RCV002721013] Chr7:5741746 [GRCh38]
Chr7:5781377 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1826C>T (p.Ser609Phe) single nucleotide variant Inborn genetic diseases [RCV002897585] Chr7:5715060 [GRCh38]
Chr7:5754691 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.435C>T (p.Phe145=) single nucleotide variant not provided [RCV002646667] Chr7:5741582 [GRCh38]
Chr7:5781213 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2532C>T (p.Pro844=) single nucleotide variant not provided [RCV003063319] Chr7:5623100 [GRCh38]
Chr7:5662731 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1982+13G>T single nucleotide variant not provided [RCV002630282] Chr7:5712702 [GRCh38]
Chr7:5752333 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2667C>G (p.Pro889=) single nucleotide variant not provided [RCV002962376] Chr7:5622965 [GRCh38]
Chr7:5662596 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.198A>G (p.Thr66=) single nucleotide variant not provided [RCV002598145] Chr7:5752849 [GRCh38]
Chr7:5792480 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2282G>A (p.Arg761Gln) single nucleotide variant not provided [RCV002577829] Chr7:5641254 [GRCh38]
Chr7:5680885 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.953A>G (p.Gln318Arg) single nucleotide variant Inborn genetic diseases [RCV002832369] Chr7:5741064 [GRCh38]
Chr7:5780695 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1583_1584del (p.Leu528fs) microsatellite not provided [RCV003044178] Chr7:5721093..5721094 [GRCh38]
Chr7:5760724..5760725 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_207111.4(RNF216):c.68-16C>G single nucleotide variant not provided [RCV002580745] Chr7:5752995 [GRCh38]
Chr7:5792626 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.312A>G (p.Glu104=) single nucleotide variant not provided [RCV003062811] Chr7:5741705 [GRCh38]
Chr7:5781336 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1934G>A (p.Arg645Gln) single nucleotide variant not provided [RCV002635332] Chr7:5712763 [GRCh38]
Chr7:5752394 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.986G>T (p.Trp329Leu) single nucleotide variant not provided [RCV002585897] Chr7:5741031 [GRCh38]
Chr7:5780662 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2067C>G (p.Thr689=) single nucleotide variant not provided [RCV002610037] Chr7:5652505 [GRCh38]
Chr7:5692136 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.83G>A (p.Arg28Gln) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV003485815]|not provided [RCV003069506] Chr7:5752964 [GRCh38]
Chr7:5792595 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_207111.4(RNF216):c.1762G>A (p.Ala588Thr) single nucleotide variant not provided [RCV002606965] Chr7:5715124 [GRCh38]
Chr7:5754755 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1834-12G>A single nucleotide variant not provided [RCV002583414] Chr7:5712875 [GRCh38]
Chr7:5752506 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2043T>C (p.Pro681=) single nucleotide variant not provided [RCV002588377] Chr7:5711779 [GRCh38]
Chr7:5751410 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.415C>A (p.Pro139Thr) single nucleotide variant not provided [RCV002613356] Chr7:5741602 [GRCh38]
Chr7:5781233 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1646A>G (p.His549Arg) single nucleotide variant not provided [RCV002582414] Chr7:5716765 [GRCh38]
Chr7:5756396 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.817G>A (p.Ala273Thr) single nucleotide variant Inborn genetic diseases [RCV003175805] Chr7:5741200 [GRCh38]
Chr7:5780831 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1491C>G (p.Phe497Leu) single nucleotide variant Inborn genetic diseases [RCV003195102] Chr7:5725337 [GRCh38]
Chr7:5764968 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.545A>T (p.Glu182Val) single nucleotide variant Inborn genetic diseases [RCV003214772] Chr7:5741472 [GRCh38]
Chr7:5781103 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1020C>T (p.Leu340=) single nucleotide variant not provided [RCV003223244] Chr7:5740997 [GRCh38]
Chr7:5780628 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1153T>G (p.Tyr385Asp) single nucleotide variant Inborn genetic diseases [RCV003199205] Chr7:5730786 [GRCh38]
Chr7:5770417 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1del (p.Met1fs) deletion Cerebellar ataxia-hypogonadism syndrome [RCV003135783] Chr7:5761069 [GRCh38]
Chr7:5800700 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1644G>C (p.Glu548Asp) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV003135784] Chr7:5721033 [GRCh38]
Chr7:5760664 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1267C>T (p.Leu423Phe) single nucleotide variant Inborn genetic diseases [RCV003258248] Chr7:5729554 [GRCh38]
Chr7:5769185 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.54C>G (p.Cys18Trp) single nucleotide variant Cerebellar ataxia-hypogonadism syndrome [RCV003142704] Chr7:5761016 [GRCh38]
Chr7:5800647 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2240G>T (p.Arg747Leu) single nucleotide variant Inborn genetic diseases [RCV003196926] Chr7:5641296 [GRCh38]
Chr7:5680927 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2279G>A (p.Cys760Tyr) single nucleotide variant not provided [RCV003227218] Chr7:5641257 [GRCh38]
Chr7:5680888 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1779C>G (p.Phe593Leu) single nucleotide variant not provided [RCV003227420] Chr7:5715107 [GRCh38]
Chr7:5754738 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2492C>T (p.Pro831Leu) single nucleotide variant Inborn genetic diseases [RCV003378775] Chr7:5623140 [GRCh38]
Chr7:5662771 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2690A>G (p.Asn897Ser) single nucleotide variant Inborn genetic diseases [RCV003347396] Chr7:5622942 [GRCh38]
Chr7:5662573 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3 copy number gain not provided [RCV003484665] Chr7:43361..8890475 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3 copy number gain not provided [RCV003484666] Chr7:43361..5965440 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
NM_207111.4(RNF216):c.1110T>C (p.Tyr370=) single nucleotide variant RNF216-related condition [RCV003966422]|not provided [RCV003436628] Chr7:5739287 [GRCh38]
Chr7:5778918 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.345_351del (p.Asn116fs) deletion not provided [RCV003481737] Chr7:5741666..5741672 [GRCh38]
Chr7:5781297..5781303 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_207111.4(RNF216):c.352T>C (p.Leu118=) single nucleotide variant not provided [RCV003436629] Chr7:5741665 [GRCh38]
Chr7:5781296 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.725C>T (p.Pro242Leu) single nucleotide variant RNF216-related condition [RCV003414420] Chr7:5741292 [GRCh38]
Chr7:5780923 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.2400T>G (p.Leu800=) single nucleotide variant not provided [RCV003436627] Chr7:5624108 [GRCh38]
Chr7:5663739 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.607G>C (p.Asp203His) single nucleotide variant not provided [RCV003442510] Chr7:5741410 [GRCh38]
Chr7:5781041 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_207111.4(RNF216):c.1371C>T (p.His457=) single nucleotide variant not provided [RCV003826789] Chr7:5729450 [GRCh38]
Chr7:5769081 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1389+15C>G single nucleotide variant not provided [RCV003830172] Chr7:5729417 [GRCh38]
Chr7:5769048 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2673G>A (p.Leu891=) single nucleotide variant not provided [RCV003689914] Chr7:5622959 [GRCh38]
Chr7:5662590 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1834-20G>T single nucleotide variant not provided [RCV003714516] Chr7:5712883 [GRCh38]
Chr7:5752514 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1045-7T>A single nucleotide variant not provided [RCV003877454] Chr7:5739359 [GRCh38]
Chr7:5778990 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2061+8G>A single nucleotide variant not provided [RCV003836205] Chr7:5711753 [GRCh38]
Chr7:5751384 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1284C>T (p.Phe428=) single nucleotide variant not provided [RCV003835593] Chr7:5729537 [GRCh38]
Chr7:5769168 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.138G>C (p.Leu46=) single nucleotide variant not provided [RCV003837362] Chr7:5752909 [GRCh38]
Chr7:5792540 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2085A>T (p.Gly695=) single nucleotide variant not provided [RCV003843553] Chr7:5652487 [GRCh38]
Chr7:5692118 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1866G>A (p.Thr622=) single nucleotide variant not provided [RCV003729204] Chr7:5712831 [GRCh38]
Chr7:5752462 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2453-8C>T single nucleotide variant not provided [RCV003676221] Chr7:5623187 [GRCh38]
Chr7:5662818 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1549C>T (p.Arg517Ter) single nucleotide variant not provided [RCV003556637] Chr7:5721128 [GRCh38]
Chr7:5760759 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_207111.4(RNF216):c.975G>A (p.Leu325=) single nucleotide variant not provided [RCV003844426] Chr7:5741042 [GRCh38]
Chr7:5780673 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.1(chr7:5376510-5934779)x3 copy number gain not specified [RCV003986716] Chr7:5376510..5934779 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_207111.4(RNF216):c.2731C>T (p.Leu911=) single nucleotide variant not provided [RCV003680114] Chr7:5622901 [GRCh38]
Chr7:5662532 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.1965C>T (p.Tyr655=) single nucleotide variant not provided [RCV003821332] Chr7:5712732 [GRCh38]
Chr7:5752363 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.990G>A (p.Gly330=) single nucleotide variant RNF216-related condition [RCV003971988] Chr7:5741027 [GRCh38]
Chr7:5780658 [GRCh37]
Chr7:7p22.1		 likely benign
NM_207111.4(RNF216):c.2580G>A (p.Ala860=) single nucleotide variant RNF216-related condition [RCV003964588] Chr7:5623052 [GRCh38]
Chr7:5662683 [GRCh37]
Chr7:7p22.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4247
Count of miRNA genes:1212
Interacting mature miRNAs:1534
Transcripts:ENST00000389900, ENST00000389902, ENST00000411812, ENST00000416985, ENST00000425013, ENST00000469375, ENST00000476345, ENST00000479541, ENST00000484458
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
STS-D45621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,659,697 - 5,659,826UniSTSGRCh37
Build 3675,626,223 - 5,626,352RGDNCBI36
Celera75,619,314 - 5,619,443RGD
Cytogenetic Map7p22.1UniSTS
HuRef75,571,756 - 5,571,885UniSTS
CRA_TCAGchr7v275,706,042 - 5,706,171UniSTS
GeneMap99-GB4 RH Map735.18UniSTS
NCBI RH Map7147.2UniSTS
RH91865  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,662,318 - 5,662,463UniSTSGRCh37
Build 3675,628,844 - 5,628,989RGDNCBI36
Celera75,621,935 - 5,622,080RGD
Cytogenetic Map7p22.1UniSTS
HuRef75,574,378 - 5,574,523UniSTS
CRA_TCAGchr7v275,708,663 - 5,708,808UniSTS
GeneMap99-GB4 RH Map734.31UniSTS
GDB:1318486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,771,979 - 5,772,128UniSTSGRCh37
GRCh3775,021,620 - 5,021,769UniSTSGRCh37
Build 3674,988,146 - 4,988,295RGDNCBI36
Celera74,980,973 - 4,981,122RGD
Celera75,731,581 - 5,731,730UniSTS
Cytogenetic Map7p22.1UniSTS
HuRef74,936,726 - 4,936,875UniSTS
HuRef75,684,303 - 5,684,452UniSTS
CRA_TCAGchr7v275,067,975 - 5,068,124UniSTS
CRA_TCAGchr7v275,818,324 - 5,818,473UniSTS
RH48964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,663,265 - 5,663,390UniSTSGRCh37
Build 3675,629,791 - 5,629,916RGDNCBI36
Celera75,622,882 - 5,623,007RGD
Cytogenetic Map7p22.1UniSTS
HuRef75,575,325 - 5,575,450UniSTS
CRA_TCAGchr7v275,709,610 - 5,709,735UniSTS
GeneMap99-GB4 RH Map735.67UniSTS
NCBI RH Map788.2UniSTS
TRIAD3_9789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,660,782 - 5,661,623UniSTSGRCh37
Build 3675,627,308 - 5,628,149RGDNCBI36
Celera75,620,399 - 5,621,240RGD
HuRef75,572,841 - 5,573,683UniSTS
CRA_TCAGchr7v275,707,127 - 5,707,968UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
Clen36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,807,734 - 5,808,057UniSTSGRCh37
Celera75,767,334 - 5,767,657UniSTS
HuRef75,720,011 - 5,720,340UniSTS
CRA_TCAGchr7v275,854,079 - 5,854,402UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
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Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


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 2132 2251 1333 248 1605 117 3976 1549 2613 292 1426 1602 147 1 1187 2456 5 2
Low 307 740 393 376 345 348 381 648 1121 127 34 11 28 17 332 1
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF228527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF513717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF513718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY062174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY177396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY177397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY177398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM793093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM970811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM997118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ018569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON840517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000389900   ⟹   ENSP00000374550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,622,695 - 5,761,138 (-)Ensembl
RefSeq Acc Id: ENST00000389902   ⟹   ENSP00000374552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,620,047 - 5,781,663 (-)Ensembl
RefSeq Acc Id: ENST00000411812   ⟹   ENSP00000409837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,741,579 - 5,781,646 (-)Ensembl
RefSeq Acc Id: ENST00000416985   ⟹   ENSP00000396829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,761,011 - 5,781,620 (-)Ensembl
RefSeq Acc Id: ENST00000425013   ⟹   ENSP00000404602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,620,047 - 5,781,696 (-)Ensembl
RefSeq Acc Id: ENST00000469375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,622,927 - 5,650,015 (-)Ensembl
RefSeq Acc Id: ENST00000476345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,761,088 - 5,780,292 (-)Ensembl
RefSeq Acc Id: ENST00000479541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,729,530 - 5,739,492 (-)Ensembl
RefSeq Acc Id: ENST00000484458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,641,348 - 5,713,441 (-)Ensembl
RefSeq Acc Id: NM_001377156   ⟹   NP_001364085
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,620,047 - 5,781,663 (-)NCBI
T2T-CHM13v2.075,737,579 - 5,899,098 (-)NCBI
Sequence:
RefSeq Acc Id: NM_207111   ⟹   NP_996994
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,620,047 - 5,781,663 (-)NCBI
GRCh3775,659,672 - 5,821,361 (-)ENTREZGENE
Build 3675,626,204 - 5,787,818 (-)NCBI Archive
HuRef75,571,731 - 5,733,450 (-)ENTREZGENE
CHM1_175,659,283 - 5,820,961 (-)NCBI
T2T-CHM13v2.075,737,579 - 5,899,098 (-)NCBI
CRA_TCAGchr7v275,706,017 - 5,867,706 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_207116   ⟹   NP_996999
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,620,047 - 5,781,663 (-)NCBI
GRCh3775,659,672 - 5,821,361 (-)ENTREZGENE
Build 3675,626,204 - 5,787,818 (-)NCBI Archive
HuRef75,571,731 - 5,733,450 (-)ENTREZGENE
CHM1_175,659,283 - 5,820,961 (-)NCBI
T2T-CHM13v2.075,737,579 - 5,899,098 (-)NCBI
CRA_TCAGchr7v275,706,017 - 5,867,706 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_005249785   ⟹   XP_005249842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,620,047 - 5,780,875 (-)NCBI
GRCh3775,659,672 - 5,821,361 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420524   ⟹   XP_047276480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,620,047 - 5,778,663 (-)NCBI
RefSeq Acc Id: XM_047420525   ⟹   XP_047276481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,620,047 - 5,780,875 (-)NCBI
RefSeq Acc Id: XM_047420526   ⟹   XP_047276482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,620,047 - 5,777,817 (-)NCBI
RefSeq Acc Id: XM_047420527   ⟹   XP_047276483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,652,413 - 5,781,663 (-)NCBI
RefSeq Acc Id: XM_047420528   ⟹   XP_047276484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,652,413 - 5,781,663 (-)NCBI
RefSeq Acc Id: XM_047420529   ⟹   XP_047276485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,620,047 - 5,761,104 (-)NCBI
RefSeq Acc Id: XM_054358492   ⟹   XP_054214467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.075,737,579 - 5,896,102 (-)NCBI
RefSeq Acc Id: XM_054358493   ⟹   XP_054214468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.075,737,579 - 5,899,098 (-)NCBI
RefSeq Acc Id: XM_054358494   ⟹   XP_054214469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.075,737,579 - 5,897,708 (-)NCBI
RefSeq Acc Id: XM_054358495   ⟹   XP_054214470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.075,737,579 - 5,897,743 (-)NCBI
RefSeq Acc Id: XM_054358496   ⟹   XP_054214471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.075,737,579 - 5,895,256 (-)NCBI
RefSeq Acc Id: XM_054358497   ⟹   XP_054214472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.075,769,945 - 5,899,098 (-)NCBI
RefSeq Acc Id: XM_054358498   ⟹   XP_054214473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.075,769,945 - 5,899,098 (-)NCBI
RefSeq Acc Id: XM_054358499   ⟹   XP_054214474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.075,737,579 - 5,878,535 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001364085 (Get FASTA)   NCBI Sequence Viewer  
  NP_996994 (Get FASTA)   NCBI Sequence Viewer  
  NP_996999 (Get FASTA)   NCBI Sequence Viewer  
  XP_005249842 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276480 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276481 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276482 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276483 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276484 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276485 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214467 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214468 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214469 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214470 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214471 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214472 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214473 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214474 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF36723 (Get FASTA)   NCBI Sequence Viewer  
  AAH00787 (Get FASTA)   NCBI Sequence Viewer  
  AAH63825 (Get FASTA)   NCBI Sequence Viewer  
  AAL38043 (Get FASTA)   NCBI Sequence Viewer  
  AAO60361 (Get FASTA)   NCBI Sequence Viewer  
  AAO60362 (Get FASTA)   NCBI Sequence Viewer  
  AAO60363 (Get FASTA)   NCBI Sequence Viewer  
  AAP47174 (Get FASTA)   NCBI Sequence Viewer  
  AAP47175 (Get FASTA)   NCBI Sequence Viewer  
  AAS07532 (Get FASTA)   NCBI Sequence Viewer  
  BAA91422 (Get FASTA)   NCBI Sequence Viewer  
  BAF85085 (Get FASTA)   NCBI Sequence Viewer  
  BAG36978 (Get FASTA)   NCBI Sequence Viewer  
  BAG53927 (Get FASTA)   NCBI Sequence Viewer  
  BAG59714 (Get FASTA)   NCBI Sequence Viewer  
  BAG59849 (Get FASTA)   NCBI Sequence Viewer  
  CAD97648 (Get FASTA)   NCBI Sequence Viewer  
  EAW87347 (Get FASTA)   NCBI Sequence Viewer  
  EAW87348 (Get FASTA)   NCBI Sequence Viewer  
  EAW87349 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000374550.4
  ENSP00000374552
  ENSP00000374552.3
  ENSP00000396829.1
  ENSP00000404602
  ENSP00000404602.2
  ENSP00000409837.1
GenBank Protein Q9NWF9 (Get FASTA)   NCBI Sequence Viewer  
  WEG19388 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_996999   ⟸   NM_207116
- Peptide Label: isoform b
- UniProtKB: Q9NYT1 (UniProtKB/Swiss-Prot),   Q9NWF9 (UniProtKB/Swiss-Prot),   Q8NHW7 (UniProtKB/Swiss-Prot),   Q7Z7C1 (UniProtKB/Swiss-Prot),   Q7Z2H7 (UniProtKB/Swiss-Prot),   Q75ML7 (UniProtKB/Swiss-Prot),   Q6Y691 (UniProtKB/Swiss-Prot),   A8K8N1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_996994   ⟸   NM_207111
- Peptide Label: isoform a
- UniProtKB: A8K8N1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249842   ⟸   XM_005249785
- Peptide Label: isoform X1
- UniProtKB: A8K8N1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001364085   ⟸   NM_001377156
- Peptide Label: isoform b
- UniProtKB: Q9NYT1 (UniProtKB/Swiss-Prot),   Q9NWF9 (UniProtKB/Swiss-Prot),   Q8NHW7 (UniProtKB/Swiss-Prot),   Q7Z7C1 (UniProtKB/Swiss-Prot),   Q7Z2H7 (UniProtKB/Swiss-Prot),   Q75ML7 (UniProtKB/Swiss-Prot),   Q6Y691 (UniProtKB/Swiss-Prot),   A8K8N1 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000404602   ⟸   ENST00000425013
RefSeq Acc Id: ENSP00000409837   ⟸   ENST00000411812
RefSeq Acc Id: ENSP00000374550   ⟸   ENST00000389900
RefSeq Acc Id: ENSP00000374552   ⟸   ENST00000389902
RefSeq Acc Id: ENSP00000396829   ⟸   ENST00000416985
RefSeq Acc Id: XP_047276481   ⟸   XM_047420525
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047276480   ⟸   XM_047420524
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047276482   ⟸   XM_047420526
- Peptide Label: isoform X2
- UniProtKB: Q9NYT1 (UniProtKB/Swiss-Prot),   Q9NWF9 (UniProtKB/Swiss-Prot),   Q8NHW7 (UniProtKB/Swiss-Prot),   Q7Z7C1 (UniProtKB/Swiss-Prot),   Q7Z2H7 (UniProtKB/Swiss-Prot),   Q75ML7 (UniProtKB/Swiss-Prot),   Q6Y691 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047276485   ⟸   XM_047420529
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047276484   ⟸   XM_047420528
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047276483   ⟸   XM_047420527
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054214468   ⟸   XM_054358493
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054214470   ⟸   XM_054358495
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054214469   ⟸   XM_054358494
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054214467   ⟸   XM_054358492
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054214471   ⟸   XM_054358496
- Peptide Label: isoform X2
- UniProtKB: Q9NYT1 (UniProtKB/Swiss-Prot),   Q9NWF9 (UniProtKB/Swiss-Prot),   Q8NHW7 (UniProtKB/Swiss-Prot),   Q7Z7C1 (UniProtKB/Swiss-Prot),   Q7Z2H7 (UniProtKB/Swiss-Prot),   Q75ML7 (UniProtKB/Swiss-Prot),   Q6Y691 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054214474   ⟸   XM_054358499
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054214473   ⟸   XM_054358498
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054214472   ⟸   XM_054358497
- Peptide Label: isoform X3
Protein Domains
RING-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NWF9-F1-model_v2 AlphaFold Q9NWF9 1-866 view protein structure

Promoters
RGD ID:7209877
Promoter ID:EPDNEW_H10681
Type:initiation region
Name:RNF216_1
Description:ring finger protein 216
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
GRCh3875,781,646 - 5,781,706EPDNEW
RGD ID:6806131
Promoter ID:HG_KWN:56178
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000340374,   OTTHUMT00000340375,   OTTHUMT00000340376,   OTTHUMT00000340378,   OTTHUMT00000340379,   UC003SOZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3675,787,481 - 5,787,981 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21698 AgrOrtholog
COSMIC RNF216 COSMIC
Ensembl Genes ENSG00000011275 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000389900.8 UniProtKB/TrEMBL
  ENST00000389902 ENTREZGENE
  ENST00000389902.8 UniProtKB/Swiss-Prot
  ENST00000411812.1 UniProtKB/TrEMBL
  ENST00000416985.5 UniProtKB/TrEMBL
  ENST00000425013 ENTREZGENE
  ENST00000425013.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.120.1750 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000011275 GTEx
HGNC ID HGNC:21698 ENTREZGENE
Human Proteome Map RNF216 Human Proteome Map
InterPro BRcat_RBR_RNF216 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IBR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rcat_RBR_RNF216 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RING-HC_RBR_RNF216 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRIAD_supradom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54476 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54476 ENTREZGENE
OMIM 609948 OMIM
PANTHER E3 UBIQUITIN-PROTEIN LIGASE RNF216 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN CONJUGATING ENZYME 7 INTERACTING PROTEIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162401829 PharmGKB
PROSITE TRIAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IBR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K8N1 ENTREZGENE, UniProtKB/TrEMBL
  C9JIV3_HUMAN UniProtKB/TrEMBL
  F8W6D1_HUMAN UniProtKB/TrEMBL
  F8WDI8_HUMAN UniProtKB/TrEMBL
  Q6Y691 ENTREZGENE
  Q75ML7 ENTREZGENE
  Q7Z2H7 ENTREZGENE
  Q7Z7C1 ENTREZGENE
  Q8NHW7 ENTREZGENE
  Q9NWF9 ENTREZGENE
  Q9NYT1 ENTREZGENE
  RN216_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q6Y691 UniProtKB/Swiss-Prot
  Q75ML7 UniProtKB/Swiss-Prot
  Q7Z2H7 UniProtKB/Swiss-Prot
  Q7Z7C1 UniProtKB/Swiss-Prot
  Q8NHW7 UniProtKB/Swiss-Prot
  Q9NYT1 UniProtKB/Swiss-Prot