RNF113A (ring finger protein 113A) - Rat Genome Database

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Gene: RNF113A (ring finger protein 113A) Homo sapiens
Analyze
Symbol: RNF113A
Name: ring finger protein 113A
RGD ID: 1344435
HGNC Page HGNC:12974
Description: Enables ubiquitin protein ligase activity. Involved in mRNA splicing, via spliceosome; negative regulation of chemokine-mediated signaling pathway; and protein ubiquitination. Located in nucleoplasm. Part of U2-type precatalytic spliceosome. Implicated in nonphotosensitive trichothiodystrophy 5.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Cwc24; cwc24 homolog; E3 ubiquitin-protein ligase RNF113A; RNF113; TTD5; zinc finger protein 183 (RING finger, C3HC4 type); ZNF183
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X119,870,475 - 119,871,733 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX119,870,475 - 119,871,733 (-)EnsemblGRCh38hg38GRCh38
GRCh37X119,004,438 - 119,005,696 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X118,888,466 - 118,889,818 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X118,786,319 - 118,787,672NCBI
CeleraX119,459,140 - 119,460,436 (-)NCBICelera
Cytogenetic MapXq24NCBI
HuRefX108,497,612 - 108,498,908 (-)NCBIHuRef
CHM1_1X118,915,570 - 118,916,866 (-)NCBICHM1_1
T2T-CHM13v2.0X118,245,597 - 118,246,855 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality of prenatal development or birth  (IAGP)
Absence of subcutaneous fat  (IAGP)
Alopecia of scalp  (IAGP)
Anemia  (IAGP)
Aplasia/Hypoplasia of the nails  (IAGP)
Astigmatism  (IAGP)
Autism  (IAGP)
Bilateral microphthalmos  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Bird-like facies  (IAGP)
Brittle hair  (IAGP)
Broad-based gait  (IAGP)
Bronchoconstriction  (IAGP)
Cardiomyopathy  (IAGP)
Carious teeth  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral dysmyelination  (IAGP)
Chronic decreased circulating IgG1  (IAGP)
Chronic diarrhea  (IAGP)
Clubbing  (IAGP)
Coarse facial features  (IAGP)
Concave nail  (IAGP)
Congenital exfoliative erythroderma  (IAGP)
Congenital onset  (IAGP)
Conjunctivitis  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous photosensitivity  (IAGP)
Cutis marmorata  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased testicular size  (IAGP)
Defective DNA repair after ultraviolet radiation damage  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Developmental cataract  (IAGP)
Diffuse cerebellar atrophy  (IAGP)
Dry skin  (IAGP)
Dysarthria  (IAGP)
Dysphonia  (IAGP)
Dystrophic fingernails  (IAGP)
Ectropion  (IAGP)
Eczematoid dermatitis  (IAGP)
Enamel hypoplasia  (IAGP)
Epicanthus  (IAGP)
Esotropia  (IAGP)
Fragile nails  (IAGP)
Gait ataxia  (IAGP)
Generalized hyperreflexia  (IAGP)
Generalized hypotonia  (IAGP)
Generalized-onset seizure  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Gonadal dysgenesis  (IAGP)
High forehead  (IAGP)
High, narrow palate  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of mandible relative to maxilla  (IAGP)
Hyporeflexia  (IAGP)
Hypotelorism  (IAGP)
Ichthyosis  (IAGP)
Increased bone mineral density  (IAGP)
Increased mean corpuscular hemoglobin concentration  (IAGP)
Intellectual disability, profound  (IAGP)
Intention tremor  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint dislocation  (IAGP)
Keratoconjunctivitis sicca  (IAGP)
Low-set nipples  (IAGP)
Macular degeneration  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micropenis  (IAGP)
Multiple joint contractures  (IAGP)
Myopia  (IAGP)
Neutropenia  (IAGP)
Numerous pigmented freckles  (IAGP)
Nystagmus  (IAGP)
Optic nerve hypoplasia  (IAGP)
Osteopenia  (IAGP)
Panhypogammaglobulinemia  (IAGP)
Panhypopituitarism  (IAGP)
Paraplegia/paraparesis  (IAGP)
Partial agenesis of the corpus callosum  (IAGP)
Peripheral neuropathy  (IAGP)
Periventricular leukomalacia  (IAGP)
Photophobia  (IAGP)
Prematurely aged appearance  (IAGP)
Progeroid facial appearance  (IAGP)
Progressive microcephaly  (IAGP)
Protruding ear  (IAGP)
Recurrent bronchopulmonary infections  (IAGP)
Recurrent infections  (IAGP)
Reduced hair sulfur content  (IAGP)
Reduced social reciprocity  (IAGP)
Retinal degeneration  (IAGP)
Retinal dystrophy  (IAGP)
Retrognathia  (IAGP)
Ridged nail  (IAGP)
Short stature  (IAGP)
Slow-growing hair  (IAGP)
Sparse eyebrow  (IAGP)
Sparse hair  (IAGP)
Sparse scalp hair  (IAGP)
Spasticity  (IAGP)
Split nail  (IAGP)
Squamous cell carcinoma  (IAGP)
Strabismus  (IAGP)
Thoracic kyphosis  (IAGP)
Tiger tail banding  (IAGP)
Umbilical hernia  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Wide mouth  (IAGP)
Widely spaced primary teeth  (IAGP)
X-linked dominant inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9224902   PMID:12477932   PMID:15345747   PMID:15489334   PMID:15772651   PMID:17081983   PMID:19690564   PMID:21044950   PMID:21873635   PMID:22365833   PMID:22412018   PMID:22493164  
PMID:24999758   PMID:25612912   PMID:26186194   PMID:26496610   PMID:26735018   PMID:26972000   PMID:27609421   PMID:28378594   PMID:28514442   PMID:28978524   PMID:29360106   PMID:29393393  
PMID:29568061   PMID:30021884   PMID:30404004   PMID:30890647   PMID:31091453   PMID:31793730   PMID:31880405   PMID:31985874   PMID:32152280   PMID:32344865   PMID:32460013   PMID:33916271  
PMID:33961781   PMID:34079125   PMID:34373451   PMID:34597346   PMID:34686315   PMID:35256949   PMID:35439318   PMID:35563538   PMID:35819319   PMID:35831314   PMID:35944360   PMID:36736316  
PMID:37164050   PMID:37827155  


Genomics

Comparative Map Data
RNF113A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X119,870,475 - 119,871,733 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX119,870,475 - 119,871,733 (-)EnsemblGRCh38hg38GRCh38
GRCh37X119,004,438 - 119,005,696 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X118,888,466 - 118,889,818 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X118,786,319 - 118,787,672NCBI
CeleraX119,459,140 - 119,460,436 (-)NCBICelera
Cytogenetic MapXq24NCBI
HuRefX108,497,612 - 108,498,908 (-)NCBIHuRef
CHM1_1X118,915,570 - 118,916,866 (-)NCBICHM1_1
T2T-CHM13v2.0X118,245,597 - 118,246,855 (-)NCBIT2T-CHM13v2.0
Rnf113a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X36,454,875 - 36,456,120 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX36,454,898 - 36,456,120 (+)EnsemblGRCm39 Ensembl
GRCm38X37,191,222 - 37,192,467 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX37,191,245 - 37,192,467 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X34,731,338 - 34,732,462 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X33,622,788 - 33,623,912 (+)NCBIMGSCv36mm8
CeleraX23,914,653 - 23,915,777 (+)NCBICelera
Cytogenetic MapXA3.3NCBI
cM MapX21.61NCBI
Rnf113a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X121,293,621 - 121,294,844 (+)NCBIGRCr8
mRatBN7.2X116,427,941 - 116,429,164 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX116,427,684 - 116,433,762 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0X123,806,922 - 123,808,049 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX123,806,918 - 123,808,049 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 EnsemblX124,516,949 - 124,518,077 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X124,602,718 - 124,603,845 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X7,725,172 - 7,726,299 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X7,730,730 - 7,731,855 (-)NCBI
CeleraX115,655,511 - 115,656,638 (+)NCBICelera
Cytogenetic MapXq35NCBI
Rnf113a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955534154,380 - 155,417 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955534154,242 - 155,474 (+)NCBIChiLan1.0ChiLan1.0
RNF113A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X119,278,356 - 119,279,437 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X119,281,956 - 119,283,049 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X108,934,081 - 108,935,376 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X119,328,861 - 119,330,150 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX119,328,911 - 119,329,942 (-)Ensemblpanpan1.1panPan2
RNF113A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X91,884,757 - 91,885,998 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX91,884,808 - 91,885,854 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX77,959,142 - 77,960,381 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X93,623,633 - 93,624,872 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX93,623,684 - 93,624,730 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X91,076,239 - 91,077,478 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X92,835,657 - 92,836,896 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X92,564,609 - 92,565,848 (-)NCBIUU_Cfam_GSD_1.0
Rnf113a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X90,908,095 - 90,909,340 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647910,078,304 - 10,079,338 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647910,078,201 - 10,079,400 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RNF113A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX98,218,565 - 98,219,773 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X98,218,689 - 98,219,931 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X113,392,111 - 113,393,355 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RNF113A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366606532,665,051 - 32,666,343 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rnf113a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248953,812,423 - 3,813,466 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248953,812,369 - 3,813,657 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RNF113A
82 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
NM_006978.3(RNF113A):c.901C>T (p.Gln301Ter) single nucleotide variant Trichothiodystrophy 5, nonphotosensitive [RCV000173011] ChrX:119870713 [GRCh38]
ChrX:119004676 [GRCh37]
ChrX:Xq24		 pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1		 pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_006978.3(RNF113A):c.247T>A (p.Leu83Met) single nucleotide variant not provided [RCV000122529] ChrX:119871367 [GRCh38]
ChrX:119005330 [GRCh37]
ChrX:Xq24		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28		 pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_118986730)_(119603030_?)dup duplication Danon disease [RCV000258048] ChrX:118986730..119603030 [GRCh37]
ChrX:Xq24		 uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_006978.3(RNF113A):c.836A>G (p.His279Arg) single nucleotide variant not provided [RCV000485614] ChrX:119870778 [GRCh38]
ChrX:119004741 [GRCh37]
ChrX:Xq24		 likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28		 uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1		 pathogenic
GRCh37/hg19 Xq24(chrX:118053103-119334499)x2 copy number gain not provided [RCV000753733] ChrX:118053103..119334499 [GRCh37]
ChrX:Xq24		 uncertain significance
GRCh37/hg19 Xq24(chrX:118967114-119128106)x3 copy number gain not provided [RCV000753738] ChrX:118967114..119128106 [GRCh37]
ChrX:Xq24		 benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_006978.3(RNF113A):c.-11A>G single nucleotide variant Trichothiodystrophy 5, nonphotosensitive [RCV001796612]|not provided [RCV001611962] ChrX:119871624 [GRCh38]
ChrX:119005587 [GRCh37]
ChrX:Xq24		 benign
NM_006978.3(RNF113A):c.725G>A (p.Gly242Asp) single nucleotide variant not provided [RCV000968442] ChrX:119870889 [GRCh38]
ChrX:119004852 [GRCh37]
ChrX:Xq24		 likely benign
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 copy number gain not provided [RCV001007336] ChrX:117119895..129850963 [GRCh37]
ChrX:Xq24-26.1		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
NM_006978.3(RNF113A):c.264A>G (p.Glu88=) single nucleotide variant RNF113A-related condition [RCV003960705]|not provided [RCV000960328] ChrX:119871350 [GRCh38]
ChrX:119005313 [GRCh37]
ChrX:Xq24		 likely benign
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_006978.3(RNF113A):c.1006G>A (p.Asp336Asn) single nucleotide variant not provided [RCV000957772] ChrX:119870608 [GRCh38]
ChrX:119004571 [GRCh37]
ChrX:Xq24		 benign
NC_000023.11:g.119870442T>A single nucleotide variant not provided [RCV001620067] ChrX:119870442 [GRCh38]
ChrX:119004405 [GRCh37]
ChrX:Xq24		 benign
NM_006978.3(RNF113A):c.897_898del (p.Cys299_Asp300delinsTer) microsatellite Trichothiodystrophy 5, nonphotosensitive [RCV001093583] ChrX:119870716..119870717 [GRCh38]
ChrX:119004679..119004680 [GRCh37]
ChrX:Xq24		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_006978.3(RNF113A):c.903_910del (p.Gln302fs) deletion Trichothiodystrophy 5, nonphotosensitive [RCV001007876] ChrX:119870704..119870711 [GRCh38]
ChrX:119004667..119004674 [GRCh37]
ChrX:Xq24		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq24(chrX:118913756-119311583)x2 copy number gain not provided [RCV001259494] ChrX:118913756..119311583 [GRCh37]
ChrX:Xq24		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 copy number gain not provided [RCV001259495] ChrX:117120780..129850994 [GRCh37]
ChrX:Xq24-26.1		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_006978.3(RNF113A):c.484T>C (p.Tyr162His) single nucleotide variant Trichothiodystrophy 5, nonphotosensitive [RCV001330341] ChrX:119871130 [GRCh38]
ChrX:119005093 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.763G>A (p.Asp255Asn) single nucleotide variant See cases [RCV002252362]|not provided [RCV001327242] ChrX:119870851 [GRCh38]
ChrX:119004814 [GRCh37]
ChrX:Xq24		 likely benign|uncertain significance
NM_006978.3(RNF113A):c.76G>A (p.Gly26Arg) single nucleotide variant Trichothiodystrophy 5, nonphotosensitive [RCV001330342] ChrX:119871538 [GRCh38]
ChrX:119005501 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.279C>T (p.Pro93=) single nucleotide variant not provided [RCV001504968] ChrX:119871335 [GRCh38]
ChrX:119005298 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.558C>G (p.Pro186=) single nucleotide variant not provided [RCV001497448] ChrX:119871056 [GRCh38]
ChrX:119005019 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.120C>G (p.Pro40=) single nucleotide variant not provided [RCV003108717] ChrX:119871494 [GRCh38]
ChrX:119005457 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.860T>C (p.Leu287Pro) single nucleotide variant Trichothiodystrophy 5, nonphotosensitive [RCV002466694]|not provided [RCV001754988] ChrX:119870754 [GRCh38]
ChrX:119004717 [GRCh37]
ChrX:Xq24		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_006978.3(RNF113A):c.817G>A (p.Val273Ile) single nucleotide variant not provided [RCV001872491] ChrX:119870797 [GRCh38]
ChrX:119004760 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.93A>T (p.Arg31Ser) single nucleotide variant not provided [RCV001928801] ChrX:119871521 [GRCh38]
ChrX:119005484 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.323C>G (p.Pro108Arg) single nucleotide variant Inborn genetic diseases [RCV002579598]|not provided [RCV002003213] ChrX:119871291 [GRCh38]
ChrX:119005254 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.471C>A (p.Asn157Lys) single nucleotide variant not provided [RCV002004315] ChrX:119871143 [GRCh38]
ChrX:119005106 [GRCh37]
ChrX:Xq24		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_006978.3(RNF113A):c.197T>A (p.Met66Lys) single nucleotide variant not provided [RCV001940853] ChrX:119871417 [GRCh38]
ChrX:119005380 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.136A>G (p.Ser46Gly) single nucleotide variant not provided [RCV001962448] ChrX:119871478 [GRCh38]
ChrX:119005441 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.242_244del (p.Gly81del) deletion not provided [RCV002033093] ChrX:119871370..119871372 [GRCh38]
ChrX:119005333..119005335 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.256G>C (p.Glu86Gln) single nucleotide variant not provided [RCV001991213] ChrX:119871358 [GRCh38]
ChrX:119005321 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.442G>C (p.Glu148Gln) single nucleotide variant not provided [RCV002014854] ChrX:119871172 [GRCh38]
ChrX:119005135 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.995C>T (p.Pro332Leu) single nucleotide variant not provided [RCV001878522] ChrX:119870619 [GRCh38]
ChrX:119004582 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.102G>A (p.Pro34=) single nucleotide variant not provided [RCV002088169] ChrX:119871512 [GRCh38]
ChrX:119005475 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.735G>T (p.Glu245Asp) single nucleotide variant not provided [RCV002193233] ChrX:119870879 [GRCh38]
ChrX:119004842 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.384C>T (p.Arg128=) single nucleotide variant not provided [RCV002139074] ChrX:119871230 [GRCh38]
ChrX:119005193 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.285T>A (p.Ser95Arg) single nucleotide variant RNF113A-related condition [RCV003896030]|not provided [RCV002200645] ChrX:119871329 [GRCh38]
ChrX:119005292 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.423G>A (p.Gln141=) single nucleotide variant not provided [RCV002199013] ChrX:119871191 [GRCh38]
ChrX:119005154 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.1023C>T (p.Pro341=) single nucleotide variant not provided [RCV002217352] ChrX:119870591 [GRCh38]
ChrX:119004554 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.373G>C (p.Glu125Gln) single nucleotide variant not provided [RCV002158172] ChrX:119871241 [GRCh38]
ChrX:119005204 [GRCh37]
ChrX:Xq24		 likely benign
NC_000023.10:g.(?_117629935)_(119761021_?)dup duplication not provided [RCV003109599] ChrX:117629935..119761021 [GRCh37]
ChrX:Xq24		 uncertain significance
NC_000023.10:g.(?_118968841)_(119010497_?)del deletion not provided [RCV003109601] ChrX:118968841..119010497 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.508A>G (p.Met170Val) single nucleotide variant not provided [RCV003114825] ChrX:119871106 [GRCh38]
ChrX:119005069 [GRCh37]
ChrX:Xq24		 uncertain significance
NC_000023.10:g.(?_117629935)_(119761021_?)del deletion X-linked intellectual disability Cabezas type [RCV003113287] ChrX:117629935..119761021 [GRCh37]
ChrX:Xq24		 pathogenic
NM_006978.3(RNF113A):c.315G>C (p.Ser105=) single nucleotide variant not provided [RCV003112987] ChrX:119871299 [GRCh38]
ChrX:119005262 [GRCh37]
ChrX:Xq24		 benign
NC_000023.10:g.(?_118708675)_(119761021_?)dup duplication Syndromic X-linked intellectual disability 14 [RCV003123017] ChrX:118708675..119761021 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.1011G>A (p.Glu337=) single nucleotide variant not provided [RCV003118701] ChrX:119870603 [GRCh38]
ChrX:119004566 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.861del (p.Gln288fs) deletion Abnormal cerebral morphology [RCV002275918] ChrX:119870753 [GRCh38]
ChrX:119004716 [GRCh37]
ChrX:Xq24		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 copy number gain not provided [RCV002291535] ChrX:76794355..119282836 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
GRCh37/hg19 Xq24(chrX:118718147-119128855)x3 copy number gain not provided [RCV002474642] ChrX:118718147..119128855 [GRCh37]
ChrX:Xq24		 uncertain significance
GRCh37/hg19 Xq24(chrX:118927963-119106405)x3 copy number gain not provided [RCV002474744] ChrX:118927963..119106405 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.155C>T (p.Thr52Ile) single nucleotide variant not provided [RCV002727067] ChrX:119871459 [GRCh38]
ChrX:119005422 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.420C>T (p.Ile140=) single nucleotide variant not provided [RCV002858503] ChrX:119871194 [GRCh38]
ChrX:119005157 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.749A>G (p.Glu250Gly) single nucleotide variant not provided [RCV003014263] ChrX:119870865 [GRCh38]
ChrX:119004828 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.855T>C (p.Cys285=) single nucleotide variant not provided [RCV002994333] ChrX:119870759 [GRCh38]
ChrX:119004722 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.453G>A (p.Lys151=) single nucleotide variant not provided [RCV003035045] ChrX:119871161 [GRCh38]
ChrX:119005124 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.597C>G (p.Pro199=) single nucleotide variant not provided [RCV003021028] ChrX:119871017 [GRCh38]
ChrX:119004980 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.74A>G (p.Lys25Arg) single nucleotide variant Inborn genetic diseases [RCV003167643]|RNF113A-related condition [RCV003418587]|not provided [RCV002695474] ChrX:119871540 [GRCh38]
ChrX:119005503 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.28_29delinsCT (p.Ala10Leu) indel not provided [RCV003054198] ChrX:119871585..119871586 [GRCh38]
ChrX:119005548..119005549 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.911A>G (p.Asn304Ser) single nucleotide variant Inborn genetic diseases [RCV002660480] ChrX:119870703 [GRCh38]
ChrX:119004666 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.357C>A (p.Val119=) single nucleotide variant not provided [RCV003038788] ChrX:119871257 [GRCh38]
ChrX:119005220 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.600C>T (p.Asp200=) single nucleotide variant not provided [RCV002872125] ChrX:119871014 [GRCh38]
ChrX:119004977 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.382C>T (p.Arg128Cys) single nucleotide variant Inborn genetic diseases [RCV002787156]|not provided [RCV003777731] ChrX:119871232 [GRCh38]
ChrX:119005195 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.740A>G (p.Glu247Gly) single nucleotide variant not provided [RCV002593467] ChrX:119870874 [GRCh38]
ChrX:119004837 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.441GGA[1] (p.Glu148del) microsatellite not provided [RCV003043920] ChrX:119871168..119871170 [GRCh38]
ChrX:119005131..119005133 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.565C>T (p.Leu189=) single nucleotide variant not provided [RCV003029349] ChrX:119871049 [GRCh38]
ChrX:119005012 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.952G>A (p.Glu318Lys) single nucleotide variant Inborn genetic diseases [RCV002589670]|not provided [RCV002578513] ChrX:119870662 [GRCh38]
ChrX:119004625 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.915C>T (p.Gly305=) single nucleotide variant not provided [RCV002899095] ChrX:119870699 [GRCh38]
ChrX:119004662 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.682C>T (p.His228Tyr) single nucleotide variant not provided [RCV002681036] ChrX:119870932 [GRCh38]
ChrX:119004895 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.964G>A (p.Ala322Thr) single nucleotide variant not provided [RCV002607444] ChrX:119870650 [GRCh38]
ChrX:119004613 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.401T>C (p.Phe134Ser) single nucleotide variant not provided [RCV002605800] ChrX:119871213 [GRCh38]
ChrX:119005176 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.975G>T (p.Glu325Asp) single nucleotide variant not provided [RCV002608928] ChrX:119870639 [GRCh38]
ChrX:119004602 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.101C>T (p.Pro34Leu) single nucleotide variant Inborn genetic diseases [RCV003281412] ChrX:119871513 [GRCh38]
ChrX:119005476 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.872G>A (p.Arg291His) single nucleotide variant Inborn genetic diseases [RCV003386060] ChrX:119870742 [GRCh38]
ChrX:119004705 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.196A>G (p.Met66Val) single nucleotide variant not provided [RCV003543678] ChrX:119871418 [GRCh38]
ChrX:119005381 [GRCh37]
ChrX:Xq24		 uncertain significance
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2 copy number gain not provided [RCV003483973] ChrX:110921170..124327177 [GRCh37]
ChrX:Xq23-25		 pathogenic
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 copy number loss not provided [RCV003483927] ChrX:91274467..126799984 [GRCh37]
ChrX:Xq21.31-25		 pathogenic
NM_006978.3(RNF113A):c.992T>G (p.Leu331Trp) single nucleotide variant RNF113A-related condition [RCV003406254] ChrX:119870622 [GRCh38]
ChrX:119004585 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.562C>A (p.His188Asn) single nucleotide variant not provided [RCV003441270] ChrX:119871052 [GRCh38]
ChrX:119005015 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.58A>G (p.Lys20Glu) single nucleotide variant not provided [RCV003695480] ChrX:119871556 [GRCh38]
ChrX:119005519 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.466A>G (p.Ile156Val) single nucleotide variant not provided [RCV003830934] ChrX:119871148 [GRCh38]
ChrX:119005111 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.131G>A (p.Gly44Asp) single nucleotide variant not provided [RCV003877707] ChrX:119871483 [GRCh38]
ChrX:119005446 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.325G>A (p.Val109Met) single nucleotide variant not provided [RCV003882487] ChrX:119871289 [GRCh38]
ChrX:119005252 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.445G>T (p.Asp149Tyr) single nucleotide variant not provided [RCV003880983] ChrX:119871169 [GRCh38]
ChrX:119005132 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.816A>C (p.Pro272=) single nucleotide variant not provided [RCV003693220] ChrX:119870798 [GRCh38]
ChrX:119004761 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.559G>A (p.Glu187Lys) single nucleotide variant not provided [RCV003660356] ChrX:119871055 [GRCh38]
ChrX:119005018 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.801G>A (p.Gln267=) single nucleotide variant not provided [RCV003545144] ChrX:119870813 [GRCh38]
ChrX:119004776 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.375G>C (p.Glu125Asp) single nucleotide variant not provided [RCV003669462] ChrX:119871239 [GRCh38]
ChrX:119005202 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.371C>T (p.Thr124Ile) single nucleotide variant not provided [RCV003839927] ChrX:119871243 [GRCh38]
ChrX:119005206 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.993G>A (p.Leu331=) single nucleotide variant RNF113A-related condition [RCV003956604]|not provided [RCV003839697] ChrX:119870621 [GRCh38]
ChrX:119004584 [GRCh37]
ChrX:Xq24		 likely benign|uncertain significance
NM_006978.3(RNF113A):c.525C>T (p.Ser175=) single nucleotide variant not provided [RCV003837946] ChrX:119871089 [GRCh38]
ChrX:119005052 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.633C>T (p.Cys211=) single nucleotide variant not provided [RCV003668988] ChrX:119870981 [GRCh38]
ChrX:119004944 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.330A>C (p.Gly110=) single nucleotide variant not provided [RCV003667453] ChrX:119871284 [GRCh38]
ChrX:119005247 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.681G>A (p.Lys227=) single nucleotide variant not provided [RCV003866710] ChrX:119870933 [GRCh38]
ChrX:119004896 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.803G>C (p.Ser268Thr) single nucleotide variant not provided [RCV003733005] ChrX:119870811 [GRCh38]
ChrX:119004774 [GRCh37]
ChrX:Xq24		 uncertain significance
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) copy number loss not specified [RCV003986202] ChrX:103405294..155233731 [GRCh37]
ChrX:Xq22.2-28		 pathogenic
GRCh37/hg19 Xq24(chrX:118982260-119101845) copy number gain not specified [RCV003986261] ChrX:118982260..119101845 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.452A>G (p.Lys151Arg) single nucleotide variant not provided [RCV003822945] ChrX:119871162 [GRCh38]
ChrX:119005125 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.445G>A (p.Asp149Asn) single nucleotide variant not provided [RCV003844309] ChrX:119871169 [GRCh38]
ChrX:119005132 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.899A>T (p.Asp300Val) single nucleotide variant not provided [RCV003863424] ChrX:119870715 [GRCh38]
ChrX:119004678 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.834G>A (p.Arg278=) single nucleotide variant not provided [RCV003556592] ChrX:119870780 [GRCh38]
ChrX:119004743 [GRCh37]
ChrX:Xq24		 likely benign
NM_006978.3(RNF113A):c.363G>A (p.Glu121=) single nucleotide variant not provided [RCV003680942] ChrX:119871251 [GRCh38]
ChrX:119005214 [GRCh37]
ChrX:Xq24		 uncertain significance
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_006978.3(RNF113A):c.118C>G (p.Pro40Ala) single nucleotide variant RNF113A-related condition [RCV003419041] ChrX:119871496 [GRCh38]
ChrX:119005459 [GRCh37]
ChrX:Xq24		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xq24(chrX:118749182-119039684)x3 copy number gain not provided [RCV000684379] ChrX:118749182..119039684 [GRCh37]
ChrX:Xq24		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_006978.3(RNF113A):c.1019T>G (p.Ile340Ser) single nucleotide variant not provided [RCV002469618] ChrX:119870595 [GRCh38]
ChrX:119004558 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.89G>A (p.Arg30His) single nucleotide variant not provided [RCV002639714] ChrX:119871525 [GRCh38]
ChrX:119005488 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.89G>T (p.Arg30Leu) single nucleotide variant Inborn genetic diseases [RCV003283076] ChrX:119871525 [GRCh38]
ChrX:119005488 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_006978.3(RNF113A):c.890_891del (p.Tyr297fs) deletion Trichothiodystrophy 5, nonphotosensitive [RCV003325934] ChrX:119870723..119870724 [GRCh38]
ChrX:119004686..119004687 [GRCh37]
ChrX:Xq24		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:165
Count of miRNA genes:162
Interacting mature miRNAs:165
Transcripts:ENST00000371442
Prediction methods:Miranda, Pita, Rnahybrid
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
SHGC-57117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,004,594 - 119,004,695UniSTSGRCh37
Build 36X118,888,622 - 118,888,723RGDNCBI36
CeleraX119,459,239 - 119,459,340RGD
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq25-q26UniSTS
HuRefX108,497,711 - 108,497,812UniSTS
RH47820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,004,549 - 119,004,679UniSTSGRCh37
Build 36X118,888,577 - 118,888,707RGDNCBI36
CeleraX119,459,194 - 119,459,324RGD
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq25-q26UniSTS
HuRefX108,497,666 - 108,497,796UniSTS
GeneMap99-GB4 RH MapX298.19UniSTS
NCBI RH MapX608.9UniSTS


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 2328 2252 1535 464 1884 310 3904 1286 3023 348 1164 1600 166 1134 2341 3
Low 111 738 191 160 67 155 453 911 709 71 294 13 7 1 70 447 3 2
Below cutoff 1 1 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000371442   ⟹   ENSP00000360497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX119,870,475 - 119,871,733 (-)Ensembl
RefSeq Acc Id: NM_006978   ⟹   NP_008909
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,870,475 - 119,871,733 (-)NCBI
GRCh37X119,004,495 - 119,005,791 (-)RGD
Build 36X118,888,466 - 118,889,818 (-)NCBI Archive
CeleraX119,459,140 - 119,460,436 (-)RGD
HuRefX108,497,612 - 108,498,908 (-)ENTREZGENE
CHM1_1X118,915,570 - 118,916,866 (-)NCBI
T2T-CHM13v2.0X118,245,597 - 118,246,855 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_008909   ⟸   NM_006978
- UniProtKB: B2RBR7 (UniProtKB/Swiss-Prot),   O15541 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000360497   ⟸   ENST00000371442

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15541-F1-model_v2 AlphaFold O15541 1-343 view protein structure

Promoters
RGD ID:6809180
Promoter ID:HG_KWN:67898
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006978
Position:
Human AssemblyChrPosition (strand)Source
Build 36X118,888,831 - 118,889,812 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12974 AgrOrtholog
COSMIC RNF113A COSMIC
Ensembl Genes ENSG00000125352 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000371442 ENTREZGENE
  ENST00000371442.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000125352 GTEx
HGNC ID HGNC:12974 ENTREZGENE
Human Proteome Map RNF113A Human Proteome Map
InterPro CWC24-like UniProtKB/Swiss-Prot
  Znf_CCCH UniProtKB/Swiss-Prot
  Znf_CCCH_sf UniProtKB/Swiss-Prot
  Znf_RING UniProtKB/Swiss-Prot
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot
  Znf_RING_CS UniProtKB/Swiss-Prot
KEGG Report hsa:7737 UniProtKB/Swiss-Prot
NCBI Gene 7737 ENTREZGENE
OMIM 300951 OMIM
PANTHER E3 UBIQUITIN-PROTEIN LIGASE RNF113A UniProtKB/Swiss-Prot
  PTHR12930 UniProtKB/Swiss-Prot
Pfam zf-C3HC4_3 UniProtKB/Swiss-Prot
  zf-CCCH UniProtKB/Swiss-Prot
PharmGKB PA37556 PharmGKB
PROSITE ZF_C3H1 UniProtKB/Swiss-Prot
  ZF_RING_1 UniProtKB/Swiss-Prot
  ZF_RING_2 UniProtKB/Swiss-Prot
SMART RING UniProtKB/Swiss-Prot
  ZnF_C3H1 UniProtKB/Swiss-Prot
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot
  SSF90229 UniProtKB/Swiss-Prot
UniProt B2RBR7 ENTREZGENE
  O15541 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RBR7 UniProtKB/Swiss-Prot