WRAP53 (WD repeat containing antisense to TP53) - Rat Genome Database

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Gene: WRAP53 (WD repeat containing antisense to TP53) Homo sapiens
Analyze
Symbol: WRAP53
Name: WD repeat containing antisense to TP53
RGD ID: 1605665
HGNC Page HGNC
Description: Enables several functions, including chaperone binding activity; telomerase RNA binding activity; and ubiquitin protein ligase binding activity. Involved in several processes, including RNA localization to Cajal body; positive regulation of DNA metabolic process; and telomere organization. Located in Cajal body; cytosol; and site of double-strand break. Part of telomerase holoenzyme complex. Implicated in autosomal recessive dyskeratosis congenita 3; colorectal cancer; head and neck squamous cell carcinoma; lung non-small cell carcinoma; and ovarian cancer. Biomarker of breast cancer; carcinoma (multiple); colorectal cancer; ovarian cancer; and rectal benign neoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKCB3; FLJ10385; TCAB1; telomerase Cajal body protein 1; WD repeat containing, antisense to TP53; WD repeat domain 79; WD repeat-containing protein 79; WD repeat-containing protein WRAP53; WD-encoding RNA antisense to p53; WD40 protein Wrap53; WD40 repeat-containing protein antisense to TP53; WD40 repeat-containing protein encoding RNA antisense to p53; WDR79; WRAP53beta
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
GRCh38.p13 Ensembl177,686,071 - 7,703,502 (+)EnsemblGRCh38hg38GRCh38
GRCh38177,686,071 - 7,703,502 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37177,589,389 - 7,606,820 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,532,520 - 7,547,544 (+)NCBINCBI36hg18NCBI36
Celera177,615,750 - 7,633,180 (+)NCBI
Cytogenetic Map17p13.1NCBI
HuRef177,482,804 - 7,500,156 (+)NCBIHuRef
CHM1_1177,598,524 - 7,615,973 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal blistering of the skin  (IAGP)
Abnormal eyebrow morphology  (IAGP)
Abnormal eyelash morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal morphology of female internal genitalia  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of coagulation  (IAGP)
Abnormality of neutrophils  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the pharynx  (IAGP)
Alopecia  (IAGP)
Anemia  (IAGP)
Anorectal anomaly  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Aplastic/hypoplastic toenail  (IAGP)
Autosomal recessive inheritance  (IAGP)
Avascular necrosis  (IAGP)
Blepharitis  (IAGP)
Bone marrow hypocellularity  (IAGP)
Breast carcinoma  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cellular immunodeficiency  (IAGP)
Cerebral calcification  (IAGP)
Cirrhosis  (IAGP)
Coarse metaphyseal trabecularization  (IAGP)
Congenital hypoplastic anemia  (IAGP)
Diabetes mellitus  (IAGP)
Displacement of the urethral meatus  (IAGP)
Esophageal stenosis  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hepatic failure  (IAGP)
Hepatomegaly  (IAGP)
Hyperhidrosis  (IAGP)
Hypermelanotic macule  (IAGP)
Hypodontia  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Intrauterine growth retardation  (IAGP)
Lymphoma  (IAGP)
Malabsorption  (IAGP)
Nail dysplasia  (IAGP)
Nail dystrophy  (IAGP)
Neoplasm of the pancreas  (IAGP)
Oral leukoplakia  (IAGP)
Osteoporosis  (IAGP)
Palmoplantar keratoderma  (IAGP)
Pancytopenia  (IAGP)
Periodontitis  (IAGP)
Premature graying of hair  (IAGP)
Recurrent fractures  (IAGP)
Recurrent respiratory infections  (IAGP)
Scoliosis  (IAGP)
Short stature  (IAGP)
Skin ulcer  (IAGP)
Skin vesicle  (IAGP)
Sparse hair  (IAGP)
Splenomegaly  (IAGP)
Squamous cell carcinoma  (IAGP)
Taurodontia  (IAGP)
Telangiectasia of the skin  (IAGP)
Thrombocytopenia  (IAGP)
Tracheoesophageal fistula  (IAGP)
Urethral stenosis  (IAGP)
White hair  (IAGP)
References

References - curated
1. Garvin S, etal., Oral Oncol. 2015 Jan;51(1):24-30. doi: 10.1016/j.oraloncology.2014.10.003. Epub 2014 Oct 27.
2. Hedstrom E, etal., Cell Death Dis. 2015 Oct 1;6:e1892. doi: 10.1038/cddis.2015.250.
3. Kamel MM, etal., Transl Res. 2016 Feb;168:134-45. doi: 10.1016/j.trsl.2015.10.002. Epub 2015 Oct 24.
4. Kim DS, etal., Oncol Lett. 2018 Nov;16(5):5823-5828. doi: 10.3892/ol.2018.9404. Epub 2018 Sep 5.
5. Mędrek K, etal., Mol Biol Rep. 2013 Mar;40(3):2145-7. doi: 10.1007/s11033-012-2273-9. Epub 2012 Nov 29.
6. OMIM Disease Annotation Pipeline
7. Peng J, etal., J Cancer. 2019 Jun 2;10(13):3046-3053. doi: 10.7150/jca.30587. eCollection 2019.
8. Rao X, etal., PLoS One. 2014 Mar 13;9(3):e91670. doi: 10.1371/journal.pone.0091670. eCollection 2014.
9. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. RGD automated import pipeline for gene-chemical interactions
11. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. Sedaie Bonab A, etal., Med Oncol. 2014 Sep;31(9):168. doi: 10.1007/s12032-014-0168-4. Epub 2014 Aug 19.
13. Silwal-Pandit L, etal., PLoS One. 2015 Oct 13;10(10):e0139965. doi: 10.1371/journal.pone.0139965. eCollection 2015.
14. Sun CK, etal., Mol Cancer. 2014 Jul 28;13:180. doi: 10.1186/1476-4598-13-180.
15. Tiefenböck-Hansson K, etal., Oncol Rep. 2017 Oct;38(4):2062-2068. doi: 10.3892/or.2017.5898. Epub 2017 Aug 11.
16. Wang K, etal., Sci Rep. 2017 Jun 12;7(1):3218. doi: 10.1038/s41598-017-03156-3.
17. Wang MJ, etal., Sci Rep. 2015 May 27;5:10645. doi: 10.1038/srep10645.
18. Yuan XS, etal., Tumour Biol. 2017 Mar;39(3):1010428317694309. doi: 10.1177/1010428317694309.
19. Zhang H, etal., BMC Cancer. 2012 Jul 17;12:294. doi: 10.1186/1471-2407-12-294.
20. Zhong F, etal., Genes Dev. 2011 Jan 1;25(1):11-6. doi: 10.1101/gad.2006411.
21. Zhu Y, etal., Med Sci Monit. 2018 Sep 3;24:6129-6136. doi: 10.12659/MSM.910214.
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14702039   PMID:15302935   PMID:15489334   PMID:17081983   PMID:17683073   PMID:18029348   PMID:18676680   PMID:18978339   PMID:19170196   PMID:19179534  
PMID:19250907   PMID:19285445   PMID:19339270   PMID:19342896   PMID:19571673   PMID:19625176   PMID:19692168   PMID:19797907   PMID:20301779   PMID:20351177   PMID:20360068   PMID:20494116  
PMID:21072240   PMID:21368886   PMID:21441950   PMID:21873635   PMID:22547674   PMID:22939629   PMID:23685356   PMID:23886136   PMID:25416818   PMID:25467444   PMID:25512560   PMID:25854392  
PMID:26170453   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26734725   PMID:27310875   PMID:27525856   PMID:27715493   PMID:28406480   PMID:28502804   PMID:28514442   PMID:28700943  
PMID:28986522   PMID:29509190   PMID:29514627   PMID:29516630   PMID:29695869   PMID:29804836   PMID:29934401   PMID:30463901   PMID:30759234   PMID:31387111   PMID:31527615   PMID:32296183  
PMID:32303682   PMID:32877691  


Genomics

Comparative Map Data
WRAP53
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl177,686,071 - 7,703,502 (+)EnsemblGRCh38hg38GRCh38
GRCh38177,686,071 - 7,703,502 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37177,589,389 - 7,606,820 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,532,520 - 7,547,544 (+)NCBINCBI36hg18NCBI36
Celera177,615,750 - 7,633,180 (+)NCBI
Cytogenetic Map17p13.1NCBI
HuRef177,482,804 - 7,500,156 (+)NCBIHuRef
CHM1_1177,598,524 - 7,615,973 (+)NCBICHM1_1
Wrap53
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,452,580 - 69,471,076 (-)NCBIGRCm39mm39
GRCm39 Ensembl1169,452,584 - 69,471,081 (-)Ensembl
GRCm381169,561,754 - 69,580,250 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1169,561,758 - 69,580,255 (-)EnsemblGRCm38mm10GRCm38
MGSCv371169,375,256 - 69,392,826 (-)NCBIGRCm37mm9NCBIm37
MGSCv361169,377,949 - 69,395,519 (-)NCBImm8
Celera1176,524,707 - 76,542,284 (-)NCBICelera
Cytogenetic Map11B3NCBI
Wrap53
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21054,282,092 - 54,299,908 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1054,282,105 - 54,298,929 (-)Ensembl
Rnor_6.01056,169,024 - 56,185,800 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1056,169,025 - 56,185,857 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01055,914,380 - 55,931,438 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41056,380,914 - 56,398,501 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11056,394,537 - 56,412,124 (-)NCBI
Celera1053,436,325 - 53,453,155 (-)NCBICelera
Cytogenetic Map10q24NCBI
Wrap53
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554679,225,506 - 9,240,756 (-)NCBIChiLan1.0ChiLan1.0
WRAP53
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1177,707,220 - 7,723,410 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl177,707,221 - 7,723,394 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0177,715,897 - 7,735,873 (+)NCBIMhudiblu_PPA_v0panPan3
WRAP53
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1532,574,153 - 32,586,222 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl532,574,134 - 32,594,333 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha532,712,138 - 32,725,180 (+)NCBI
ROS_Cfam_1.0532,677,789 - 32,690,832 (+)NCBI
UMICH_Zoey_3.1532,645,668 - 32,658,710 (+)NCBI
UNSW_CanFamBas_1.0532,601,891 - 32,614,933 (+)NCBI
UU_Cfam_GSD_1.0532,780,842 - 32,793,885 (+)NCBI
Wrap53
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560247,461,298 - 47,478,596 (+)NCBI
SpeTri2.0NW_004936595936,184 - 952,784 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WRAP53
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1252,954,669 - 52,974,741 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11252,954,674 - 52,968,371 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21255,205,960 - 55,219,648 (-)NCBISscrofa10.2Sscrofa10.2susScr3
WRAP53
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1167,065,531 - 7,085,590 (+)NCBI
ChlSab1.1 Ensembl167,066,333 - 7,085,625 (+)Ensembl
Vero_WHO_p1.0NW_02366605914,323,308 - 14,343,301 (-)NCBI
Wrap53
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478610,283,721 - 10,296,568 (+)NCBI

Position Markers
D17S634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,602,156 - 7,602,260UniSTSGRCh37
GRCh378125,995,893 - 125,996,667UniSTSGRCh37
Build 36177,542,881 - 7,542,985RGDNCBI36
Celera8122,184,230 - 122,185,004UniSTS
Celera177,628,516 - 7,628,620RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,495,582 - 7,495,682UniSTS
HuRef8121,319,341 - 121,320,115UniSTS
RH102959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,606,375 - 7,606,630UniSTSGRCh37
Build 36177,547,100 - 7,547,355RGDNCBI36
Celera177,632,735 - 7,632,990RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,499,711 - 7,499,966UniSTS
GeneMap99-GB4 RH Map1748.45UniSTS
GDB:181608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,590,780 - 7,591,018UniSTSGRCh37
Build 36177,531,505 - 7,531,743RGDNCBI36
Celera177,617,141 - 7,617,379RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,484,195 - 7,484,433UniSTS
GDB:316876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,589,254 - 7,589,348UniSTSGRCh37
Build 36177,529,979 - 7,530,073RGDNCBI36
Celera177,615,615 - 7,615,709RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,482,669 - 7,482,763UniSTS
MARC_3409-3410:991937215:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,604,847 - 7,605,708UniSTSGRCh37
Build 36177,545,572 - 7,546,433RGDNCBI36
Celera177,631,207 - 7,632,068RGD
HuRef177,498,183 - 7,499,044UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3601
Count of miRNA genes:613
Interacting mature miRNAs:707
Transcripts:ENST00000316024, ENST00000396463, ENST00000431639, ENST00000457584, ENST00000463804, ENST00000467699, ENST00000471973, ENST00000498114, ENST00000498311, ENST00000534050
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.


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 104 16 24 19 694 22 248 35 127 58 323 226 7 8 1
Low 2330 2944 1701 604 1245 442 4107 2142 3596 361 1133 1383 166 1 1204 2780 5 1
Below cutoff 3 28 1 11 1 18 10 2 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001143990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001143991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001143992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY766322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY766323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU876999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU877061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000316024   ⟹   ENSP00000324203
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,686,301 - 7,703,502 (+)Ensembl
RefSeq Acc Id: ENST00000396463   ⟹   ENSP00000379727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,688,477 - 7,703,502 (+)Ensembl
RefSeq Acc Id: ENST00000431639   ⟹   ENSP00000397219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,686,071 - 7,703,502 (+)Ensembl
RefSeq Acc Id: ENST00000457584   ⟹   ENSP00000411061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,687,440 - 7,703,502 (+)Ensembl
RefSeq Acc Id: ENST00000463804   ⟹   ENSP00000465025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,701,657 - 7,703,374 (+)Ensembl
RefSeq Acc Id: ENST00000467699
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,688,477 - 7,703,502 (+)Ensembl
RefSeq Acc Id: ENST00000471973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,702,118 - 7,703,502 (+)Ensembl
RefSeq Acc Id: ENST00000498114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,702,881 - 7,703,502 (+)Ensembl
RefSeq Acc Id: ENST00000498311   ⟹   ENSP00000432991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,687,600 - 7,703,501 (+)Ensembl
RefSeq Acc Id: ENST00000534050   ⟹   ENSP00000434999
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,688,477 - 7,703,502 (+)Ensembl
RefSeq Acc Id: NM_001143990   ⟹   NP_001137462
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,686,071 - 7,703,502 (+)NCBI
GRCh37177,589,389 - 7,606,820 (+)ENTREZGENE
HuRef177,482,804 - 7,500,156 (+)ENTREZGENE
CHM1_1177,598,524 - 7,615,973 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001143991   ⟹   NP_001137463
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,687,429 - 7,703,502 (+)NCBI
GRCh37177,589,389 - 7,606,820 (+)ENTREZGENE
HuRef177,482,804 - 7,500,156 (+)ENTREZGENE
CHM1_1177,599,893 - 7,615,973 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001143992   ⟹   NP_001137464
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,688,477 - 7,703,502 (+)NCBI
GRCh37177,589,389 - 7,606,820 (+)ENTREZGENE
HuRef177,482,804 - 7,500,156 (+)ENTREZGENE
CHM1_1177,600,802 - 7,615,973 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018081   ⟹   NP_060551
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,688,349 - 7,703,502 (+)NCBI
GRCh37177,589,389 - 7,606,820 (+)ENTREZGENE
Build 36177,532,520 - 7,547,544 (+)NCBI Archive
HuRef177,482,804 - 7,500,156 (+)ENTREZGENE
CHM1_1177,600,802 - 7,615,973 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523952   ⟹   XP_011522254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,688,701 - 7,703,502 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450824   ⟹   XP_024306592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,688,475 - 7,703,502 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450825   ⟹   XP_024306593
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,687,572 - 7,701,789 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001752551
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,688,318 - 7,703,495 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001137462 (Get FASTA)   NCBI Sequence Viewer  
  NP_001137463 (Get FASTA)   NCBI Sequence Viewer  
  NP_001137464 (Get FASTA)   NCBI Sequence Viewer  
  NP_060551 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522254 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306592 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306593 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH02336 (Get FASTA)   NCBI Sequence Viewer  
  AAW92115 (Get FASTA)   NCBI Sequence Viewer  
  AAW92116 (Get FASTA)   NCBI Sequence Viewer  
  ABD92817 (Get FASTA)   NCBI Sequence Viewer  
  ABD92818 (Get FASTA)   NCBI Sequence Viewer  
  ACM07585 (Get FASTA)   NCBI Sequence Viewer  
  ACM07586 (Get FASTA)   NCBI Sequence Viewer  
  ACM07587 (Get FASTA)   NCBI Sequence Viewer  
  ACM07588 (Get FASTA)   NCBI Sequence Viewer  
  ACM07589 (Get FASTA)   NCBI Sequence Viewer  
  ACM07590 (Get FASTA)   NCBI Sequence Viewer  
  ACM07591 (Get FASTA)   NCBI Sequence Viewer  
  ACM07592 (Get FASTA)   NCBI Sequence Viewer  
  ACM07593 (Get FASTA)   NCBI Sequence Viewer  
  ACM07594 (Get FASTA)   NCBI Sequence Viewer  
  ACM07595 (Get FASTA)   NCBI Sequence Viewer  
  ACM07596 (Get FASTA)   NCBI Sequence Viewer  
  ACM07597 (Get FASTA)   NCBI Sequence Viewer  
  ACM07598 (Get FASTA)   NCBI Sequence Viewer  
  ACM07599 (Get FASTA)   NCBI Sequence Viewer  
  ACM07600 (Get FASTA)   NCBI Sequence Viewer  
  ACM07601 (Get FASTA)   NCBI Sequence Viewer  
  ACM07602 (Get FASTA)   NCBI Sequence Viewer  
  ACM07603 (Get FASTA)   NCBI Sequence Viewer  
  ACM07604 (Get FASTA)   NCBI Sequence Viewer  
  ACM07605 (Get FASTA)   NCBI Sequence Viewer  
  ACM07606 (Get FASTA)   NCBI Sequence Viewer  
  ACM07607 (Get FASTA)   NCBI Sequence Viewer  
  ACM07608 (Get FASTA)   NCBI Sequence Viewer  
  ACM07609 (Get FASTA)   NCBI Sequence Viewer  
  ACM07610 (Get FASTA)   NCBI Sequence Viewer  
  ACM07611 (Get FASTA)   NCBI Sequence Viewer  
  ACM07612 (Get FASTA)   NCBI Sequence Viewer  
  ACM07613 (Get FASTA)   NCBI Sequence Viewer  
  ACM07614 (Get FASTA)   NCBI Sequence Viewer  
  ACM07615 (Get FASTA)   NCBI Sequence Viewer  
  ACM07616 (Get FASTA)   NCBI Sequence Viewer  
  ACM07617 (Get FASTA)   NCBI Sequence Viewer  
  ACM07618 (Get FASTA)   NCBI Sequence Viewer  
  ACM07619 (Get FASTA)   NCBI Sequence Viewer  
  ACM07620 (Get FASTA)   NCBI Sequence Viewer  
  ACM07621 (Get FASTA)   NCBI Sequence Viewer  
  ACM07622 (Get FASTA)   NCBI Sequence Viewer  
  ACM07623 (Get FASTA)   NCBI Sequence Viewer  
  ACM07624 (Get FASTA)   NCBI Sequence Viewer  
  ACM07625 (Get FASTA)   NCBI Sequence Viewer  
  ACM07626 (Get FASTA)   NCBI Sequence Viewer  
  ACM07627 (Get FASTA)   NCBI Sequence Viewer  
  ACM07628 (Get FASTA)   NCBI Sequence Viewer  
  ACM07629 (Get FASTA)   NCBI Sequence Viewer  
  ACM07630 (Get FASTA)   NCBI Sequence Viewer  
  ACM07631 (Get FASTA)   NCBI Sequence Viewer  
  ACM07632 (Get FASTA)   NCBI Sequence Viewer  
  ACM07633 (Get FASTA)   NCBI Sequence Viewer  
  ACM07634 (Get FASTA)   NCBI Sequence Viewer  
  ACM07635 (Get FASTA)   NCBI Sequence Viewer  
  ACM07636 (Get FASTA)   NCBI Sequence Viewer  
  ACM07637 (Get FASTA)   NCBI Sequence Viewer  
  ACM07638 (Get FASTA)   NCBI Sequence Viewer  
  ACM07639 (Get FASTA)   NCBI Sequence Viewer  
  ACM07640 (Get FASTA)   NCBI Sequence Viewer  
  ACM07641 (Get FASTA)   NCBI Sequence Viewer  
  ACM07642 (Get FASTA)   NCBI Sequence Viewer  
  ACM07643 (Get FASTA)   NCBI Sequence Viewer  
  ACM07644 (Get FASTA)   NCBI Sequence Viewer  
  ACM07645 (Get FASTA)   NCBI Sequence Viewer  
  ACM07646 (Get FASTA)   NCBI Sequence Viewer  
  ACM07647 (Get FASTA)   NCBI Sequence Viewer  
  ACM07648 (Get FASTA)   NCBI Sequence Viewer  
  ACM07649 (Get FASTA)   NCBI Sequence Viewer  
  ACM07650 (Get FASTA)   NCBI Sequence Viewer  
  ACM07651 (Get FASTA)   NCBI Sequence Viewer  
  ACM07652 (Get FASTA)   NCBI Sequence Viewer  
  ACM07653 (Get FASTA)   NCBI Sequence Viewer  
  ACM07654 (Get FASTA)   NCBI Sequence Viewer  
  ACM07655 (Get FASTA)   NCBI Sequence Viewer  
  ACM07656 (Get FASTA)   NCBI Sequence Viewer  
  ACM07657 (Get FASTA)   NCBI Sequence Viewer  
  ACM07658 (Get FASTA)   NCBI Sequence Viewer  
  ACM07659 (Get FASTA)   NCBI Sequence Viewer  
  ACM07660 (Get FASTA)   NCBI Sequence Viewer  
  ACM07661 (Get FASTA)   NCBI Sequence Viewer  
  ACM07662 (Get FASTA)   NCBI Sequence Viewer  
  ACM07663 (Get FASTA)   NCBI Sequence Viewer  
  ACM07664 (Get FASTA)   NCBI Sequence Viewer  
  ACM07665 (Get FASTA)   NCBI Sequence Viewer  
  ACM07666 (Get FASTA)   NCBI Sequence Viewer  
  ACM07667 (Get FASTA)   NCBI Sequence Viewer  
  ACM07668 (Get FASTA)   NCBI Sequence Viewer  
  ACM07669 (Get FASTA)   NCBI Sequence Viewer  
  ACM07670 (Get FASTA)   NCBI Sequence Viewer  
  ACM07671 (Get FASTA)   NCBI Sequence Viewer  
  ACM07672 (Get FASTA)   NCBI Sequence Viewer  
  ACM07673 (Get FASTA)   NCBI Sequence Viewer  
  ACM07674 (Get FASTA)   NCBI Sequence Viewer  
  ACM07675 (Get FASTA)   NCBI Sequence Viewer  
  ACM07676 (Get FASTA)   NCBI Sequence Viewer  
  ACM07677 (Get FASTA)   NCBI Sequence Viewer  
  ACM07678 (Get FASTA)   NCBI Sequence Viewer  
  ACM07679 (Get FASTA)   NCBI Sequence Viewer  
  ACM07680 (Get FASTA)   NCBI Sequence Viewer  
  ACM07681 (Get FASTA)   NCBI Sequence Viewer  
  ACM07682 (Get FASTA)   NCBI Sequence Viewer  
  ACM07683 (Get FASTA)   NCBI Sequence Viewer  
  ACM07684 (Get FASTA)   NCBI Sequence Viewer  
  ACM07685 (Get FASTA)   NCBI Sequence Viewer  
  ACM07686 (Get FASTA)   NCBI Sequence Viewer  
  ACM07687 (Get FASTA)   NCBI Sequence Viewer  
  ACM07688 (Get FASTA)   NCBI Sequence Viewer  
  ACM07689 (Get FASTA)   NCBI Sequence Viewer  
  ACM07690 (Get FASTA)   NCBI Sequence Viewer  
  ACM07691 (Get FASTA)   NCBI Sequence Viewer  
  ACM07692 (Get FASTA)   NCBI Sequence Viewer  
  ACM07693 (Get FASTA)   NCBI Sequence Viewer  
  ACM07694 (Get FASTA)   NCBI Sequence Viewer  
  ACM07695 (Get FASTA)   NCBI Sequence Viewer  
  ACM07696 (Get FASTA)   NCBI Sequence Viewer  
  ACM07697 (Get FASTA)   NCBI Sequence Viewer  
  ACM07698 (Get FASTA)   NCBI Sequence Viewer  
  ACM07699 (Get FASTA)   NCBI Sequence Viewer  
  ACM07700 (Get FASTA)   NCBI Sequence Viewer  
  BAA91579 (Get FASTA)   NCBI Sequence Viewer  
  BAG51781 (Get FASTA)   NCBI Sequence Viewer  
  BAG64330 (Get FASTA)   NCBI Sequence Viewer  
  EAW90136 (Get FASTA)   NCBI Sequence Viewer  
  EAW90137 (Get FASTA)   NCBI Sequence Viewer  
  EAW90138 (Get FASTA)   NCBI Sequence Viewer  
  EAW90139 (Get FASTA)   NCBI Sequence Viewer  
  Q9BUR4 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001137462   ⟸   NM_001143990
- UniProtKB: Q9BUR4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001137463   ⟸   NM_001143991
- UniProtKB: Q9BUR4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_060551   ⟸   NM_018081
- UniProtKB: Q9BUR4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001137464   ⟸   NM_001143992
- UniProtKB: Q9BUR4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011522254   ⟸   XM_011523952
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024306593   ⟸   XM_024450825
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024306592   ⟸   XM_024450824
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000465025   ⟸   ENST00000463804
RefSeq Acc Id: ENSP00000434999   ⟸   ENST00000534050
RefSeq Acc Id: ENSP00000411061   ⟸   ENST00000457584
RefSeq Acc Id: ENSP00000432991   ⟸   ENST00000498311
RefSeq Acc Id: ENSP00000397219   ⟸   ENST00000431639
RefSeq Acc Id: ENSP00000324203   ⟸   ENST00000316024
RefSeq Acc Id: ENSP00000379727   ⟸   ENST00000396463
Protein Domains
WD_REPEATS_REGION

Promoters
RGD ID:6794739
Promoter ID:HG_KWN:24908
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001143990,   NM_001143991,   OTTHUMT00000259385,   OTTHUMT00000259387,   OTTHUMT00000259388,   UC002GIP.1,   UC010CNL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,530,046 - 7,532,582 (+)MPROMDB
RGD ID:7233819
Promoter ID:EPDNEW_H22655
Type:initiation region
Name:WRAP53_4
Description:WD repeat containing antisense to TP53
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22656  EPDNEW_H22659  EPDNEW_H22660  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,686,680 - 7,686,740EPDNEW
RGD ID:7233823
Promoter ID:EPDNEW_H22656
Type:initiation region
Name:WRAP53_3
Description:WD repeat containing antisense to TP53
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22655  EPDNEW_H22659  EPDNEW_H22660  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,687,429 - 7,687,489EPDNEW
RGD ID:7233825
Promoter ID:EPDNEW_H22659
Type:initiation region
Name:WRAP53_2
Description:WD repeat containing antisense to TP53
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22655  EPDNEW_H22656  EPDNEW_H22660  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,688,347 - 7,688,407EPDNEW
RGD ID:7233829
Promoter ID:EPDNEW_H22660
Type:initiation region
Name:WRAP53_1
Description:WD repeat containing antisense to TP53
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22655  EPDNEW_H22656  EPDNEW_H22659  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,688,477 - 7,688,537EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000023966]|not provided [RCV001269522] Chr17:7702770 [GRCh38]
Chr17:7606088 [GRCh37]
Chr17:17p13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001143992.2(WRAP53):c.1126C>T (p.His376Tyr) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000023967] Chr17:7702514 [GRCh38]
Chr17:7605832 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000034151] Chr17:7703027 [GRCh38]
Chr17:7606345 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000034152]|not provided [RCV000439983] Chr17:7689284 [GRCh38]
Chr17:7592602 [GRCh37]
Chr17:17p13.1
pathogenic|likely pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 copy number loss See cases [RCV000051043] Chr17:5732977..8038822 [GRCh38]
Chr17:5636297..7942140 [GRCh37]
Chr17:5577021..7882865 [NCBI36]
Chr17:17p13.2-13.1
pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1
pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1
pathogenic
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 copy number loss See cases [RCV000053426] Chr17:7478195..8435524 [GRCh38]
Chr17:7381514..8338842 [GRCh37]
Chr17:7322238..8279567 [NCBI36]
Chr17:17p13.1
pathogenic
NM_001143992.2(WRAP53):c.1510T>C (p.Ser504Pro) single nucleotide variant not provided [RCV000087231] Chr17:7703349 [GRCh38]
Chr17:7606667 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_000546.5(TP53):c.-29+4A>C single nucleotide variant not provided [RCV000115714] Chr17:7687373 [GRCh38]
Chr17:7590691 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_018081.2(WRAP53):c.-1253C>T single nucleotide variant not provided [RCV000766934]|not specified [RCV000255854] Chr17:7687396 [GRCh38]
Chr17:7590714 [GRCh37]
Chr17:17p13.1
uncertain significance
NC_000017.10:g.(?_7589449)_(7591611_?)dup duplication Li-Fraumeni syndrome [RCV001303985] Chr17:7589449..7591611 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 copy number gain See cases [RCV000138220] Chr17:6361393..7750863 [GRCh38]
Chr17:6264713..7654181 [GRCh37]
Chr17:6205437..7594906 [NCBI36]
Chr17:17p13.2-13.1
likely pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
NM_000546.5(TP53):c.-29+269G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209221] Chr17:7687108 [GRCh38]
Chr17:7590426 [GRCh37]
Chr17:17p13.1
likely benign
NM_000546.5(TP53):c.-42C>T single nucleotide variant not provided [RCV000236168] Chr17:7687390 [GRCh38]
Chr17:7590708 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000268114]|not provided [RCV001517061]|not specified [RCV000243504] Chr17:7703032 [GRCh38]
Chr17:7606350 [GRCh37]
Chr17:17p13.1
benign|likely benign
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000989732]|Li-Fraumeni syndrome [RCV000354405]|not provided [RCV001516489]|not specified [RCV000253368] Chr17:7688850 [GRCh38]
Chr17:7592168 [GRCh37]
Chr17:17p13.1
benign
NM_001143992.2(WRAP53):c.1565C>G (p.Ala522Gly) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000262444]|not provided [RCV001516491]|not specified [RCV000243801] Chr17:7703404 [GRCh38]
Chr17:7606722 [GRCh37]
Chr17:17p13.1
benign
NM_001143992.2(WRAP53):c.1641G>T (p.Leu547=) single nucleotide variant not provided [RCV000970322]|not specified [RCV000248808] Chr17:7703480 [GRCh38]
Chr17:7606798 [GRCh37]
Chr17:17p13.1
benign
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp) single nucleotide variant not provided [RCV000970320]|not specified [RCV000251491] Chr17:7702801 [GRCh38]
Chr17:7606119 [GRCh37]
Chr17:17p13.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001143992.2(WRAP53):c.407C>G (p.Pro136Arg) single nucleotide variant Dyskeratosis Congenita, Recessive [RCV000373750]|Dyskeratosis congenita, autosomal recessive, 3 [RCV001123317]|Li-Fraumeni syndrome [RCV000261887]|not provided [RCV000891035]|not specified [RCV000245377] Chr17:7689055 [GRCh38]
Chr17:7592373 [GRCh37]
Chr17:17p13.1
benign|likely benign
NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000758245]|not provided [RCV000971646]|not specified [RCV000248054] Chr17:7703083 [GRCh38]
Chr17:7606401 [GRCh37]
Chr17:17p13.1
benign|likely benign
NM_001143992.2(WRAP53):c.1482A>G (p.Glu494=) single nucleotide variant not provided [RCV000970321]|not specified [RCV000253014] Chr17:7703321 [GRCh38]
Chr17:7606639 [GRCh37]
Chr17:17p13.1
benign|likely benign
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000350559]|Li-Fraumeni syndrome [RCV000319448]|not provided [RCV001516490]|not specified [RCV000250737] Chr17:7689242 [GRCh38]
Chr17:7592560 [GRCh37]
Chr17:17p13.1
benign|likely benign
NM_001143992.2(WRAP53):c.1448G>A (p.Arg483His) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000354894] Chr17:7703287 [GRCh38]
Chr17:7606605 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.834G>A (p.Thr278=) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000309518]|not provided [RCV000899517] Chr17:7701668 [GRCh38]
Chr17:7604986 [GRCh37]
Chr17:17p13.1
likely benign|uncertain significance
NM_001143992.2(WRAP53):c.1269-13C>T single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000360411] Chr17:7702980 [GRCh38]
Chr17:7606298 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_018081.2(WRAP53):c.822+6G>A single nucleotide variant Dyskeratosis Congenita, Recessive [RCV000315520] Chr17:7701555 [GRCh38]
Chr17:7604873 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.936C>T (p.Cys312=) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000366576]|not provided [RCV000957540]|not specified [RCV000502472] Chr17:7701770 [GRCh38]
Chr17:7605088 [GRCh37]
Chr17:17p13.1
benign|likely benign|uncertain significance
NM_000546.5(TP53):c.-102C>G single nucleotide variant Dyskeratosis Congenita, Recessive [RCV000272984]|Li-Fraumeni syndrome 1 [RCV001126970] Chr17:7687450 [GRCh38]
Chr17:7590768 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_018081.2(WRAP53):c.-255G>A single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000328190] Chr17:7688394 [GRCh38]
Chr17:7591712 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.495C>T (p.Ser165=) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000399881] Chr17:7689287 [GRCh38]
Chr17:7592605 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.187G>A (p.Val63Met) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000379376]|not provided [RCV001352316] Chr17:7688835 [GRCh38]
Chr17:7592153 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.-52C>T single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000378116] Chr17:7688511 [GRCh38]
Chr17:7591829 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.-2+2T>C single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000264908] Chr17:7688563 [GRCh38]
Chr17:7591881 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.431+15C>T single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000293257]|not provided [RCV001518044] Chr17:7689094 [GRCh38]
Chr17:7592412 [GRCh37]
Chr17:17p13.1
benign|likely benign|uncertain significance
NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000768138]|not provided [RCV001363759] Chr17:7689043 [GRCh38]
Chr17:7592361 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.822+10G>A single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000344488] Chr17:7701559 [GRCh38]
Chr17:7604877 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.976G>A (p.Gly326Ser) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000264649] Chr17:7702364 [GRCh38]
Chr17:7605682 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1035C>T (p.Tyr345=) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000303391]|not provided [RCV001445333] Chr17:7702423 [GRCh38]
Chr17:7605741 [GRCh37]
Chr17:17p13.1
likely benign|uncertain significance
NM_001143992.2(WRAP53):c.823-10C>T single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000407428]|not provided [RCV000880548] Chr17:7701647 [GRCh38]
Chr17:7604965 [GRCh37]
Chr17:17p13.1
benign|likely benign|uncertain significance
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000758244]|not provided [RCV000971645] Chr17:7701534 [GRCh38]
Chr17:7604852 [GRCh37]
Chr17:17p13.1
benign|likely benign
NM_001143992.2(WRAP53):c.1564del (p.Ala522fs) deletion Dyskeratosis congenita, autosomal recessive, 3 [RCV000490484]|Hereditary cancer-predisposing syndrome [RCV001005032] Chr17:7703397 [GRCh38]
Chr17:7606715 [GRCh37]
Chr17:17p13.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000546.5(TP53):c.-94C>T single nucleotide variant Dyskeratosis Congenita, Recessive [RCV000362841]|Li-Fraumeni syndrome 1 [RCV001124313] Chr17:7687442 [GRCh38]
Chr17:7590760 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143990.1(WRAP53):c.-1-313T>G single nucleotide variant Dyskeratosis Congenita, Recessive [RCV000312883] Chr17:7688335 [GRCh38]
Chr17:7591653 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1403+6C>T single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000316411] Chr17:7703133 [GRCh38]
Chr17:7606451 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_018081.2(WRAP53):c.-245G>C single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001126972]|Li-Fraumeni syndrome [RCV000369933] Chr17:7688404 [GRCh38]
Chr17:7591722 [GRCh37]
Chr17:17p13.1
benign|likely benign
NM_000546.5(TP53):c.-73C>A single nucleotide variant Dyskeratosis Congenita, Recessive [RCV000308260]|Li-Fraumeni syndrome [RCV000276492] Chr17:7687421 [GRCh38]
Chr17:7590739 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_018081.2(WRAP53):c.-206G>A single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001126973]|Li-Fraumeni syndrome [RCV000401449] Chr17:7688443 [GRCh38]
Chr17:7591761 [GRCh37]
Chr17:17p13.1
benign|likely benign
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) single nucleotide variant Dyskeratosis Congenita, Recessive [RCV000324830]|Dyskeratosis congenita, autosomal recessive, 3 [RCV001127388]|Li-Fraumeni syndrome [RCV000297658]|not provided [RCV000957539]|not specified [RCV000507427] Chr17:7688679 [GRCh38]
Chr17:7591997 [GRCh37]
Chr17:17p13.1
benign|likely benign
NC_000017.11:g.(?_7669603)_(8382316_?)del deletion Diamond-Blackfan anemia [RCV000538057]|Dyskeratosis congenita [RCV001382188] Chr17:7669603..8382316 [GRCh38]
Chr17:7572921..8285634 [GRCh37]
Chr17:17p13.1
pathogenic
GRCh37/hg19 17p13.1(chr17:7241916-8692213)x1 copy number loss See cases [RCV000445992] Chr17:7241916..8692213 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001143992.2(WRAP53):c.1075C>T (p.Pro359Ser) single nucleotide variant not provided [RCV000767151]|not specified [RCV000426413] Chr17:7702463 [GRCh38]
Chr17:7605781 [GRCh37]
Chr17:17p13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001143992.2(WRAP53):c.1226G>T (p.Arg409Leu) single nucleotide variant not provided [RCV000437085] Chr17:7702804 [GRCh38]
Chr17:7606122 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_000546.5(TP53):c.-202_*1207del deletion Li-Fraumeni syndrome [RCV000231533] Chr17:7668402..7687550 [GRCh38]
Chr17:7571720..7590868 [GRCh37]
Chr17:17p13.1
pathogenic
NM_000546.5(TP53):c.-202_-29+?del deletion Li-Fraumeni syndrome [RCV000240300] Chr17:7687377..7687550 [GRCh38]
Chr17:7590695..7590868 [GRCh37]
Chr17:17p13.1
likely pathogenic
NM_000546.5(TP53):c.-202_-29+?dup174 duplication Li-Fraumeni syndrome [RCV000240594] Chr17:7687377..7687550 [GRCh38]
Chr17:7590695..7590868 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1366_1367del (p.Ser456fs) deletion not provided [RCV000481907] Chr17:7703089..7703090 [GRCh38]
Chr17:7606407..7606408 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.621G>A (p.Glu207=) single nucleotide variant not specified [RCV000501078] Chr17:7689680 [GRCh38]
Chr17:7592998 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.615G>A (p.Glu205=) single nucleotide variant not specified [RCV000503515] Chr17:7689674 [GRCh38]
Chr17:7592992 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143992.2(WRAP53):c.1019A>G (p.Tyr340Cys) single nucleotide variant not specified [RCV000503938] Chr17:7702407 [GRCh38]
Chr17:7605725 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_000546.5(TP53):c.-111A>G single nucleotide variant not specified [RCV000504146] Chr17:7687459 [GRCh38]
Chr17:7590777 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.893G>A (p.Arg298Gln) single nucleotide variant not provided [RCV001362990]|not specified [RCV000504521] Chr17:7701727 [GRCh38]
Chr17:7605045 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1564G>A (p.Ala522Thr) single nucleotide variant not specified [RCV000502348] Chr17:7703403 [GRCh38]
Chr17:7606721 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.729C>A (p.Ser243=) single nucleotide variant not provided [RCV001398140]|not specified [RCV000500836] Chr17:7700827 [GRCh38]
Chr17:7604145 [GRCh37]
Chr17:17p13.1
likely benign|uncertain significance
GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3 copy number gain See cases [RCV000511388] Chr17:7431013..9868179 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626431] Chr17:6934163..8217978 [GRCh37]
Chr17:17p13.1
drug response
NM_000546.5(TP53):c.-29+9C>T single nucleotide variant not specified [RCV000616845] Chr17:7687368 [GRCh38]
Chr17:7590686 [GRCh37]
Chr17:17p13.1
likely benign
GRCh38/hg38 17p13.1(chr17:7603519-7768486)x1 copy number loss Vascular endothelial growth factor (VEGF) inhibitor response [RCV000626434] Chr17:7603519..7768486 [GRCh38]
Chr17:7506837..7671804 [GRCh37]
Chr17:17p13.1
drug response
NC_000017.10:g.(?_7576847)_(7591611_?)dup duplication Li-Fraumeni syndrome [RCV000633420] Chr17:7673529..7688293 [GRCh38]
Chr17:7576847..7591611 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
pathogenic
NM_001143992.2(WRAP53):c.550A>C (p.Ile184Leu) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV000768139] Chr17:7689609 [GRCh38]
Chr17:7592927 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_001143990.2(WRAP53):c.-1-448dup duplication not provided [RCV001539979] Chr17:7688193..7688194 [GRCh38]
Chr17:7591511..7591512 [GRCh37]
Chr17:17p13.1
benign
NM_001143992.2(WRAP53):c.956-8C>T single nucleotide variant not provided [RCV000939785] Chr17:7702336 [GRCh38]
Chr17:7605654 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143992.2(WRAP53):c.732C>T (p.Tyr244=) single nucleotide variant not provided [RCV000881613] Chr17:7701459 [GRCh38]
Chr17:7604777 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143992.2(WRAP53):c.1245G>A (p.Gln415=) single nucleotide variant not provided [RCV000926016] Chr17:7702823 [GRCh38]
Chr17:7606141 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143992.2(WRAP53):c.18_19del (p.Gln7fs) deletion Dyskeratosis congenita, autosomal recessive, 3 [RCV000778521] Chr17:7688665..7688666 [GRCh38]
Chr17:7591983..7591984 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.846G>A (p.Ser282=) single nucleotide variant not provided [RCV000917643] Chr17:7701680 [GRCh38]
Chr17:7604998 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143992.2(WRAP53):c.1521C>T (p.His507=) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001125416]|not provided [RCV000919316] Chr17:7703360 [GRCh38]
Chr17:7606678 [GRCh37]
Chr17:17p13.1
benign|uncertain significance
NM_001143992.2(WRAP53):c.558C>T (p.Thr186=) single nucleotide variant not provided [RCV000914342] Chr17:7689617 [GRCh38]
Chr17:7592935 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143992.2(WRAP53):c.1118del (p.Leu373fs) deletion Dyskeratosis congenita, autosomal recessive, 3 [RCV000791190] Chr17:7702506 [GRCh38]
Chr17:7605824 [GRCh37]
Chr17:17p13.1
pathogenic
NC_000017.11:g.(?_7669599)_(7688293_?)del deletion Li-Fraumeni syndrome [RCV000816616] Chr17:7669599..7688293 [GRCh38]
Chr17:7572917..7591611 [GRCh37]
Chr17:17p13.1
pathogenic
NC_000017.11:g.(?_7669599)_(8382320_?)del deletion Li-Fraumeni syndrome [RCV000803922] Chr17:7669599..8382320 [GRCh38]
Chr17:7572917..8285638 [GRCh37]
Chr17:17p13.1
pathogenic
NC_000017.11:g.(?_7687606)_(7688293_?)del deletion Li-Fraumeni syndrome [RCV000808640] Chr17:7687606..7688293 [GRCh38]
Chr17:7590924..7591611 [GRCh37]
Chr17:17p13.1
pathogenic
NC_000017.10:g.(?_7576843)_(7591611_?)dup duplication Li-Fraumeni syndrome [RCV000823980] Chr17:7673525..7688293 [GRCh38]
Chr17:7576843..7591611 [GRCh37]
Chr17:17p13.1
uncertain significance
NC_000017.11:g.(?_7673525)_(7703486_?)dup duplication Li-Fraumeni syndrome [RCV001031488] Chr17:7576843..7606804 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_000546.5(TP53):c.-43G>T single nucleotide variant Squamous cell carcinoma of the head and neck [RCV000989731] Chr17:7687391 [GRCh38]
Chr17:7590709 [GRCh37]
Chr17:17p13.1
likely benign
NC_000017.10:g.(?_7589449)_(7590046_?)dup duplication Li-Fraumeni syndrome [RCV000800682] Chr17:7686131..7686728 [GRCh38]
Chr17:7589449..7590046 [GRCh37]
Chr17:17p13.1
uncertain significance
NC_000017.11:g.(?_7686131)_(7689711_?)del deletion Li-Fraumeni syndrome [RCV001032547] Chr17:7589449..7593029 [GRCh37]
Chr17:17p13.1
pathogenic
NC_000017.10:g.(?_6589506)_(8151374_?)dup duplication Common variable agammaglobulinemia [RCV001338841]|Dyskeratosis congenita [RCV001031775] Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.530+6G>T single nucleotide variant not provided [RCV001209300] Chr17:7689328 [GRCh38]
Chr17:7592646 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1522G>A (p.Val508Ile) single nucleotide variant not provided [RCV001210125] Chr17:7703361 [GRCh38]
Chr17:7606679 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_000546.5(TP53):c.-29+5G>T single nucleotide variant Squamous cell carcinoma of the head and neck [RCV000989730] Chr17:7687372 [GRCh38]
Chr17:7590690 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1268+47G>A single nucleotide variant not provided [RCV001550670] Chr17:7702893 [GRCh38]
Chr17:7606211 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143992.2(WRAP53):c.642+116C>T single nucleotide variant not provided [RCV001555936] Chr17:7689817 [GRCh38]
Chr17:7593135 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143990.2(WRAP53):c.-1-426T>C single nucleotide variant not provided [RCV001556160] Chr17:7688222 [GRCh38]
Chr17:7591540 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143992.2(WRAP53):c.18T>A (p.Thr6=) single nucleotide variant not provided [RCV000896996] Chr17:7688666 [GRCh38]
Chr17:7591984 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001127518]|not provided [RCV000910768] Chr17:7703405 [GRCh38]
Chr17:7606723 [GRCh37]
Chr17:17p13.1
benign|likely benign
NM_001143992.2(WRAP53):c.144G>A (p.Gly48=) single nucleotide variant not provided [RCV000980572] Chr17:7688792 [GRCh38]
Chr17:7592110 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143992.2(WRAP53):c.1302C>T (p.Ser434=) single nucleotide variant not provided [RCV000909481] Chr17:7703026 [GRCh38]
Chr17:7606344 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143992.2(WRAP53):c.774C>T (p.Asp258=) single nucleotide variant not provided [RCV000924258] Chr17:7701501 [GRCh38]
Chr17:7604819 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143992.2(WRAP53):c.129G>A (p.Pro43=) single nucleotide variant not provided [RCV000924693] Chr17:7688777 [GRCh38]
Chr17:7592095 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143992.2(WRAP53):c.720A>G (p.Pro240=) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001123320]|not provided [RCV000920723] Chr17:7700818 [GRCh38]
Chr17:7604136 [GRCh37]
Chr17:17p13.1
likely benign|uncertain significance
NM_001143992.2(WRAP53):c.330C>T (p.Asn110=) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001127390] Chr17:7688978 [GRCh38]
Chr17:7592296 [GRCh37]
Chr17:17p13.1
uncertain significance
NC_000017.11:g.(?_7669599)_(7688293_?)dup duplication Li-Fraumeni syndrome [RCV001033630] Chr17:7572917..7591611 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1352C>T (p.Pro451Leu) single nucleotide variant not provided [RCV001228103] Chr17:7703076 [GRCh38]
Chr17:7606394 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.731+36C>A single nucleotide variant not provided [RCV001560769] Chr17:7700865 [GRCh38]
Chr17:7604183 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143992.2(WRAP53):c.838G>A (p.Ala280Thr) single nucleotide variant Malignant tumor of breast [RCV001005039] Chr17:7701672 [GRCh38]
Chr17:7604990 [GRCh37]
Chr17:17p13.1
risk factor|uncertain significance
NM_001143992.2(WRAP53):c.643-4A>G single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001123319] Chr17:7700737 [GRCh38]
Chr17:7604055 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1268C>T (p.Pro423Leu) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001125415] Chr17:7702846 [GRCh38]
Chr17:7606164 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.-23C>G single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001126975] Chr17:7688540 [GRCh38]
Chr17:7591858 [GRCh37]
Chr17:17p13.1
uncertain significance
NC_000017.11:g.(?_7686131)_(7703486_?)del deletion Li-Fraumeni syndrome [RCV001031477] Chr17:7589449..7606804 [GRCh37]
Chr17:17p13.1
pathogenic
NC_000017.11:g.(?_7668434)_(7703137_?)del deletion Li-Fraumeni syndrome [RCV001033343] Chr17:7571752..7606455 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001143992.2(WRAP53):c.-1-5T>G single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001127387] Chr17:7688643 [GRCh38]
Chr17:7591961 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.106G>A (p.Ala36Thr) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001127389] Chr17:7688754 [GRCh38]
Chr17:7592072 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1537C>G (p.Arg513Gly) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001127517]|not provided [RCV001309979] Chr17:7703376 [GRCh38]
Chr17:7606694 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.860C>T (p.Pro287Leu) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001124413]|not provided [RCV001319751] Chr17:7701694 [GRCh38]
Chr17:7605012 [GRCh37]
Chr17:17p13.1
uncertain significance
NC_000017.11:g.(?_7668434)_(7703486_?)dup duplication Li-Fraumeni syndrome [RCV001033565] Chr17:7571752..7606804 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1564dup (p.Ala522fs) duplication not provided [RCV001045892] Chr17:7703396..7703397 [GRCh38]
Chr17:7606714..7606715 [GRCh37]
Chr17:17p13.1
pathogenic|uncertain significance
NM_001143992.2(WRAP53):c.432-15C>G single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001123318] Chr17:7689209 [GRCh38]
Chr17:7592527 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_000546.6(TP53):c.-123C>T single nucleotide variant Li-Fraumeni syndrome 1 [RCV001126971] Chr17:7687471 [GRCh38]
Chr17:7590789 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.-62C>T single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001126974] Chr17:7688501 [GRCh38]
Chr17:7591819 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.-1-5T>C single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001127386] Chr17:7688643 [GRCh38]
Chr17:7591961 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1627G>A (p.Gly543Ser) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001127519] Chr17:7703466 [GRCh38]
Chr17:7606784 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.956-14C>T single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001124414] Chr17:7702330 [GRCh38]
Chr17:7605648 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 copy number gain not provided [RCV001259299] Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001143992.2(WRAP53):c.1441G>A (p.Gly481Ser) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001267738] Chr17:7703280 [GRCh38]
Chr17:7606598 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1561G>T (p.Gly521Trp) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001267739] Chr17:7703400 [GRCh38]
Chr17:7606718 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.767T>C (p.Ile256Thr) single nucleotide variant not provided [RCV001308585] Chr17:7701494 [GRCh38]
Chr17:7604812 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.358G>A (p.Gly120Arg) single nucleotide variant not provided [RCV001350597] Chr17:7689006 [GRCh38]
Chr17:7592324 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.122T>C (p.Met41Thr) single nucleotide variant not provided [RCV001321356] Chr17:7688770 [GRCh38]
Chr17:7592088 [GRCh37]
Chr17:17p13.1
uncertain significance
NC_000017.10:g.(?_7578129)_(7593029_?)dup duplication Li-Fraumeni syndrome [RCV001313395] Chr17:7578129..7593029 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1554del (p.Trp518fs) deletion Dyskeratosis congenita, autosomal recessive, 3 [RCV001294227] Chr17:7703392 [GRCh38]
Chr17:7606710 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001143992.2(WRAP53):c.1559G>C (p.Gly520Ala) single nucleotide variant not provided [RCV001299936] Chr17:7703398 [GRCh38]
Chr17:7606716 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.847C>T (p.Leu283Phe) single nucleotide variant not provided [RCV001269523] Chr17:7701681 [GRCh38]
Chr17:7604999 [GRCh37]
Chr17:17p13.1
likely pathogenic
NC_000017.10:g.(?_7571752)_(7606804_?)dup duplication Li-Fraumeni syndrome [RCV001303984] Chr17:7571752..7606804 [GRCh37]
Chr17:17p13.1
uncertain significance
NC_000017.10:g.(?_7576843)_(7593029_?)dup duplication Li-Fraumeni syndrome [RCV001345088] Chr17:7576843..7593029 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1564_1565delinsTG (p.Ala522Trp) indel not provided [RCV001344215] Chr17:7703403..7703404 [GRCh38]
Chr17:7606721..7606722 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.794G>A (p.Arg265Gln) single nucleotide variant not provided [RCV001302235] Chr17:7701521 [GRCh38]
Chr17:7604839 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1A>G (p.Met1Val) single nucleotide variant Dyskeratosis congenita, autosomal recessive, 3 [RCV001329044] Chr17:7688649 [GRCh38]
Chr17:7591967 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001143992.2(WRAP53):c.1063G>A (p.Asp355Asn) single nucleotide variant not provided [RCV001344472] Chr17:7702451 [GRCh38]
Chr17:7605769 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1127A>C (p.His376Pro) single nucleotide variant not provided [RCV001363737] Chr17:7702515 [GRCh38]
Chr17:7605833 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.815A>G (p.Asn272Ser) single nucleotide variant not provided [RCV001322600] Chr17:7701542 [GRCh38]
Chr17:7604860 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.768C>G (p.Ile256Met) single nucleotide variant not provided [RCV001352332] Chr17:7701495 [GRCh38]
Chr17:7604813 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1560G>T (p.Gly520=) single nucleotide variant not provided [RCV001295390] Chr17:7703399 [GRCh38]
Chr17:7606717 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.478T>C (p.Ser160Pro) single nucleotide variant not provided [RCV001508434] Chr17:7689270 [GRCh38]
Chr17:7592588 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001143992.2(WRAP53):c.1565_1566delinsGA (p.Ala522Gly) indel not provided [RCV001521649] Chr17:7703404..7703405 [GRCh38]
Chr17:7606722..7606723 [GRCh37]
Chr17:17p13.1
benign
NM_001143992.2(WRAP53):c.1332G>A (p.Gly444=) single nucleotide variant not provided [RCV001437439] Chr17:7703056 [GRCh38]
Chr17:7606374 [GRCh37]
Chr17:17p13.1
likely benign
NC_000017.10:g.(?_7571752)_(7606804_?)del deletion Li-Fraumeni syndrome [RCV001388745] Chr17:7571752..7606804 [GRCh37]
Chr17:17p13.1
pathogenic
NC_000017.10:g.(?_7572921)_(7591661_?)del deletion Li-Fraumeni syndrome [RCV001388746] Chr17:7572921..7591661 [GRCh37]
Chr17:17p13.1
pathogenic
NC_000017.10:g.(?_7578129)_(7593029_?)del deletion Li-Fraumeni syndrome [RCV001388747] Chr17:7578129..7593029 [GRCh37]
Chr17:17p13.1
pathogenic
NC_000017.10:g.(?_7589449)_(7591611_?)del deletion Li-Fraumeni syndrome [RCV001388748] Chr17:7589449..7591611 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001143992.2(WRAP53):c.733G>A (p.Val245Met) single nucleotide variant not provided [RCV001440407] Chr17:7701460 [GRCh38]
Chr17:7604778 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143992.2(WRAP53):c.1272C>T (p.Thr424=) single nucleotide variant not provided [RCV001445904] Chr17:7702996 [GRCh38]
Chr17:7606314 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143992.2(WRAP53):c.1377C>G (p.Pro459=) single nucleotide variant not provided [RCV001450889] Chr17:7703101 [GRCh38]
Chr17:7606419 [GRCh37]
Chr17:17p13.1
likely benign
NM_001143992.2(WRAP53):c.919C>T (p.Arg307Trp) single nucleotide variant not provided [RCV001508435] Chr17:7701753 [GRCh38]
Chr17:7605071 [GRCh37]
Chr17:17p13.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25522 AgrOrtholog
COSMIC WRAP53 COSMIC
Ensembl Genes ENSG00000141499 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000324203 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379727 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000397219 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000411061 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432991 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000434999 UniProtKB/TrEMBL
  ENSP00000465025 UniProtKB/TrEMBL
Ensembl Transcript ENST00000316024 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396463 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000431639 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000457584 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000463804 UniProtKB/TrEMBL
  ENST00000498311 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000534050 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000141499 GTEx
HGNC ID HGNC:25522 ENTREZGENE
Human Proteome Map WRAP53 Human Proteome Map
InterPro WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55135 UniProtKB/Swiss-Prot
NCBI Gene 55135 ENTREZGENE
OMIM 612661 OMIM
  613988 OMIM
Pfam WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164727568 PharmGKB
PROSITE WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9PMG4_HUMAN UniProtKB/TrEMBL
  E9PMR3_HUMAN UniProtKB/TrEMBL
  K7EJ50_HUMAN UniProtKB/TrEMBL
  Q9BUR4 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KPR9 UniProtKB/Swiss-Prot
  D3DTQ4 UniProtKB/Swiss-Prot
  Q08ET9 UniProtKB/Swiss-Prot
  Q9NW09 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 WRAP53  WD repeat containing antisense to TP53    WD repeat containing, antisense to TP53  Symbol and/or name change 5135510 APPROVED