RP13
MCID: RTN043
MIFTS: 43

Retinitis Pigmentosa 13 (RP13)

Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 13

MalaCards integrated aliases for Retinitis Pigmentosa 13:

Name: Retinitis Pigmentosa 13 57 12 20 72 29 13 6 15 70
Rp13 57 12 72
Retinitis Pigmentosa, Type 13 39
Rp 13 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
onset of night blindness varies among patients from early childhood to mid thirties

Inheritance:
autosomal dominant


HPO:

31
retinitis pigmentosa 13:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110403
OMIM® 57 600059
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C1838702
UMLS 70 C1838702

Summaries for Retinitis Pigmentosa 13

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 13: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

MalaCards based summary : Retinitis Pigmentosa 13, also known as rp13, is related to retinitis pigmentosa 11 and retinitis pigmentosa 10. An important gene associated with Retinitis Pigmentosa 13 is PRPF8 (Pre-MRNA Processing Factor 8), and among its related pathways/superpathways are mRNA Splicing - Major Pathway and mRNA Splicing - Minor Pathway. Affiliated tissues include retina, eye and bone, and related phenotypes are cystoid macular edema and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutations in the PRPF8 gene on chromosome 17p13.3.

More information from OMIM: 600059 PS268000

Related Diseases for Retinitis Pigmentosa 13

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 1 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa, Late-Adult Onset
Retinitis Pigmentosa 3 Retinitis Pigmentosa 24
Retinitis Pigmentosa 23 Retinitis Pigmentosa 34
Retinitis Pigmentosa 2 Retinitis Pigmentosa 6
Retinitis Pigmentosa 13 Retinitis Pigmentosa 12
Retinitis Pigmentosa 14 Retinitis Pigmentosa 11
Retinitis Pigmentosa 17 Retinitis Pigmentosa 18
Retinitis Pigmentosa 19 Retinitis Pigmentosa 22
Retinitis Pigmentosa 25 Retinitis Pigmentosa 28
Retinitis Pigmentosa 30 Retinitis Pigmentosa 7
Retinitis Pigmentosa 26 Retinitis Pigmentosa 32
Retinitis Pigmentosa 31 Retinitis Pigmentosa 35
Retinitis Pigmentosa 33 Retinitis Pigmentosa 36
Retinitis Pigmentosa 37 Retinitis Pigmentosa 41
Retinitis Pigmentosa 29 Retinitis Pigmentosa 46
Retinitis Pigmentosa 42 Retinitis Pigmentosa 50
Retinitis Pigmentosa 54 Retinitis Pigmentosa 51
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 57 Retinitis Pigmentosa 58
Retinitis Pigmentosa 4 Retinitis Pigmentosa 27
Retinitis Pigmentosa 49 Retinitis Pigmentosa 47
Retinitis Pigmentosa 45 Retinitis Pigmentosa 44
Retinitis Pigmentosa 20 Retinitis Pigmentosa 40
Retinitis Pigmentosa 39 Retinitis Pigmentosa 43
Retinitis Pigmentosa 48 Retinitis Pigmentosa 59
Retinitis Pigmentosa 38 Retinitis Pigmentosa 60
Retinitis Pigmentosa 61 Retinitis Pigmentosa 62
Retinitis Pigmentosa 63 Retinitis Pigmentosa 66
Retinitis Pigmentosa 67 Retinitis Pigmentosa 68
Retinitis Pigmentosa 69 Retinitis Pigmentosa 70
Retinitis Pigmentosa 71 Retinitis Pigmentosa 72
Retinitis Pigmentosa 73 Retinitis Pigmentosa 74
Retinitis Pigmentosa 75 Retinitis Pigmentosa 76
Retinitis Pigmentosa 77 Retinitis Pigmentosa 78
Retinitis Pigmentosa 79 Retinitis Pigmentosa 80
Retinitis Pigmentosa 81 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 13 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 11 29.9 RP9 PRPF8 PRPF6 PRPF31 PRPF3 LUC7L2
2 retinitis pigmentosa 10 29.9 RPGR RP9
3 retinitis 29.7 SNRNP200 RPGR RP9 PRPF8 PRPF31 PRPF3
4 retinitis pigmentosa 31 29.7 RPGR RP9 PRPF8 PRPF31 PRPF3
5 cone-rod dystrophy 2 29.2 SNRNP200 RPGR PRPF8 PRPF6 PRPF31 PRPF3
6 retinitis pigmentosa 28.8 SNRNP200 RPGR RP9 PRPF8 PRPF6 PRPF31
7 pseudoretinitis pigmentosa 10.3 PRPF31 PRPF3
8 retinitis pigmentosa 6 10.2 RPGR RP9
9 retinitis pigmentosa 19 10.1 RPGR RP9
10 retinitis pigmentosa 20 10.1 RPGR RP9
11 retinitis pigmentosa 14 10.1 RPGR RP9 PRPF8
12 microcephalic osteodysplastic primordial dwarfism, type i 10.1 SNRNP200 PRPF8 PRPF31 PRPF3
13 retinitis pigmentosa 17 10.1 RPGR RP9
14 usher syndrome, type iiia 10.1 RP9 PRPF8 PRPF31 PRPF3
15 retinitis pigmentosa 63 10.1 SNRNP200 PRPF6 PRPF31
16 isolated growth hormone deficiency, type ia 10.1 SNRNP200 PRPF8 PRPF31 PRPF3
17 retinitis pigmentosa 4 10.1 SNRNP200 RPGR RP9
18 retinitis pigmentosa 40 10.1 RPGR PRPF31
19 retinitis pigmentosa 57 10.1 SNRNP200 EFTUD2
20 retinitis pigmentosa 7 10.1 SNRNP200 RPGR RP9
21 neuroretinitis 10.0
22 congenital stationary night blindness 10.0 RPGR PRPF8 PRPF31 PRPF3
23 retinitis pigmentosa 18 9.9 RP9 PRPF8 PRPF6 PRPF31 PRPF3
24 choanal atresia, posterior 9.9 EFTUD2 CFAP47
25 burn-mckeown syndrome 9.9 PRPF6 EFTUD2
26 retinal disease 9.9 RPGR RP9 PRPF8 PRPF31 PRPF3
27 stargardt disease 9.9 SNRNP200 RPGR PRPF8 PRPF31 PRPF3
28 usher syndrome 9.9 RPGR RP9 PRPF8 PRPF31 PRPF3
29 leber plus disease 9.9 RPGR RP9 PRPF8 PRPF31 PRPF3
30 prostate cancer 9.9
31 leber congenital amaurosis 1 9.9
32 miller-dieker lissencephaly syndrome 9.9
33 yemenite deaf-blind hypopigmentation syndrome 9.9
34 lissencephaly 1 9.9
35 lissencephaly 9.9
36 cone dystrophy 9.9
37 retinal degeneration 9.9
38 night blindness 9.9
39 retinitis pigmentosa 33 9.8 SNRNP200 RP9 PRPF8 PRPF6 PRPF31 PRPF3
40 mandibulofacial dysostosis, guion-almeida type 9.8 SNRNP200 PRPF8 PRPF6 PRPF3 EFTUD2
41 eye degenerative disease 9.7 SNRNP200 RPGR RP9 PRPF8 PRPF31 PRPF3
42 bardet-biedl syndrome 9.7 RPGR PRPF8 PRPF31 CFAP47
43 fundus dystrophy 9.6 SNRNP200 RPGR RP9 PRPF8 PRPF6 PRPF31

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 13:



Diseases related to Retinitis Pigmentosa 13

Symptoms & Phenotypes for Retinitis Pigmentosa 13

Human phenotypes related to Retinitis Pigmentosa 13:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cystoid macular edema 31 occasional (7.5%) HP:0011505
2 nyctalopia 31 HP:0000662
3 rod-cone dystrophy 31 HP:0000510
4 hypopigmentation of the fundus 31 HP:0007894
5 retinal degeneration 31 HP:0000546
6 constriction of peripheral visual field 31 HP:0001133

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
retinal degeneration
night blindness
constricted visual fields
attenuated retinal vessels
diffuse bone spicule-like pigment clumping within the neurosensory retina
more

Clinical features from OMIM®:

600059 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 13 according to GeneCards Suite gene sharing:

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.6 RPGR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.6 PRPF3 PRPF6
3 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.6 PRPF3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.6 PRPF6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.6 RPGR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.6 LUC7L2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.6 PRPF3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.6 RPGR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.6 LUC7L2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.6 RPGR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.6 PRPF6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.6 PRPF6
13 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.6 PRPF6
14 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.6 RPGR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.6 RPGR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.6 PRPF3 RPGR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.6 PRPF3
18 Decreased influenza A virus infection GR00147-A-1 9.56 CFAP47 EFTUD2 PRPF31 PRPF8
19 Decreased influenza A virus infection GR00147-A-2 9.56 CFAP47 EFTUD2 PRPF31 PRPF8

Drugs & Therapeutics for Retinitis Pigmentosa 13

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 13

Genetic Tests for Retinitis Pigmentosa 13

Genetic tests related to Retinitis Pigmentosa 13:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 13 29 PRPF8

Anatomical Context for Retinitis Pigmentosa 13

MalaCards organs/tissues related to Retinitis Pigmentosa 13:

40
Retina, Eye, Bone, Thyroid, Prostate

Publications for Retinitis Pigmentosa 13

Articles related to Retinitis Pigmentosa 13:

(show all 45)
# Title Authors PMID Year
1
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). 61 6 57
11468273 2001
2
Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8. 57 6
22039234 2011
3
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. 6 57
20232351 2010
4
A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p. 61 57
8782056 1996
5
Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa. 61 57
8571961 1996
6
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. 6
24938718 2014
7
Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p. 57
7573060 1995
8
A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. 57
7951236 1994
9
Three microsatellite polymorphisms at the recoverin locus on chromosome 17. 57
7951220 1994
10
The complete genomic sequence of the novel myovirus RP13 infecting Ralstonia solanacearum, the causative agent of bacterial wilt. 61
33387023 2021
11
A landscape of circulating long non-coding RNA (lncRNA) expression profile and the predictive value of candidate lncRNAs for disease risk of knee osteoarthritis. 61
32557900 2020
12
A Drosophila model to study retinitis pigmentosa pathology associated with mutations in the core splicing factor Prp8. 61
32424050 2020
13
Prognostic value of a five-lncRNA signature in esophageal squamous cell carcinoma. 61
32831646 2020
14
In Silico Analysis Identifies Differently Expressed lncRNAs as Novel Biomarkers for the Prognosis of Thyroid Cancer. 61
32377223 2020
15
Identification of Long Noncoding RNA Biomarkers for Hepatocellular Carcinoma Using Single-Sample Networks. 61
33299877 2020
16
Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum. 61
32565670 2020
17
A nomogram based on 9-lncRNAs signature for improving prognostic prediction of clear cell renal cell carcinoma. 61
31404170 2019
18
Specific expression of lncRNA RP13-650J16.1 and TCONS_00023979 in prostate cancer. 61
30279207 2018
19
Selection of housekeeping genes and demonstration of RNAi in cotton leafhopper, Amrasca biguttula biguttula (Ishida). 61
29329327 2018
20
Next Generation Proteomic Pipeline for Chromosome-Based Proteomic Research Using NeXtProt and GENCODE Databases. 61
28965411 2017
21
In vitro determination of the short-chain synthetic peptide RP13 antimicrobial activity. 61
25729870 2014
22
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. 61
23950152 2013
23
Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH. 61
20578256 2010
24
Hypoxia-regulated components of the U4/U6.U5 tri-small nuclear riboprotein complex: possible role in autosomal dominant retinitis pigmentosa. 61
18334927 2008
25
Identification of an antigenic and immunogenic motif expressed by two 7-mer rituximab-specific cyclic peptide mimotopes: implication for peptide-based active immunotherapy. 61
18025245 2007
26
Double mutation in tomato ribosomal protein L3 cDNA confers tolerance to deoxynivalenol (DON) in transgenic tobacco. 61
19070152 2007
27
Crystal structure of the C-terminal domain of splicing factor Prp8 carrying retinitis pigmentosa mutants. 61
17473007 2007
28
Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa. 61
17317632 2007
29
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. 61
16799052 2006
30
FISH studies identify the i(20q-) anomaly as a der(20)del(20)(q11q13)idic(20)(p11). 61
16506189 2006
31
Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation. 61
16470732 2006
32
Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys. 61
15126168 2004
33
Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13). 61
11910553 2002
34
RP11 and RP13: unexpected gene loci. 61
11689314 2001
35
Production and characterization of monoclonal antibodies reactive with the chicken interleukin-15 receptor alpha chain. 61
11587736 2001
36
[Analysis of eye disease and adaptation of visual aids in low vision patients: review of 1,000 cases]. 61
11592008 2001
37
Activities of the combination of quinupristin-dalfopristin with rifampin in vitro and in experimental endocarditis due to Staphylococcus aureus strains with various phenotypes of resistance to macrolide-lincosamide-streptogramin antibiotics. 61
11257041 2001
38
Expression map of human chromosome region 17p13.3, spanning the RP13 dominant retinitis pigmentosa locus, the Miller-Dieker lissencephaly syndrome (MDLS) region, and a putative tumour suppressor locus. 61
10828595 2000
39
Exclusion of CAG repeat expansion as the cause of disease in autosomal dominant retinitis pigmentosa families. 61
9039989 1997
40
The gene for PEDF, a retinal growth factor is a prime candidate for retinitis pigmentosa and is tightly linked to the RP13 locus on chromosome 17p13.3. 61
9233986 1996
41
Molecular characterization of rat multigene family encoding proline-rich proteins. 61
2045095 1991
42
Estimation of genetic (co)variances for milk yield in first three lactations using an animal model and restricted maximum likelihood. 61
3584618 1987
43
A monoclonal antibody reactive with Marek's disease tumor-associated surface antigen. 61
6294177 1983
44
An IgM-producing B lymphoblastoid cell line established from lymphomas induced by a non-defective reticuloendotheliosis virus. 61
6278061 1982
45
[STUDIES ON RETINITIS PIGMENTOSA. (13). TREATMENT OF EXPERIMENTAL RETINITIS PIGMENTOSA WITH AUGENIN]. 61
14096663 1963

Variations for Retinitis Pigmentosa 13

ClinVar genetic disease variations for Retinitis Pigmentosa 13:

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRPF8 NM_006445.4(PRPF8):c.6353C>T (p.Ser2118Phe) SNV Pathogenic 30666 rs387906971 GRCh37: 17:1556852-1556852
GRCh38: 17:1653558-1653558
2 PRPF8 PRPF8, ARG2310SER SNV Pathogenic 30667 GRCh37:
GRCh38:
3 PRPF8 NM_006445.4(PRPF8):c.6912C>G (p.Phe2304Leu) SNV Pathogenic 3359 rs121434240 GRCh37: 17:1554192-1554192
GRCh38: 17:1650898-1650898
4 PRPF8 NM_006445.4(PRPF8):c.6901C>A (p.Pro2301Thr) SNV Pathogenic 3358 rs121434239 GRCh37: 17:1554203-1554203
GRCh38: 17:1650909-1650909
5 PRPF8 NM_006445.4(PRPF8):c.6929G>A (p.Arg2310Lys) SNV Pathogenic 3357 rs121434238 GRCh37: 17:1554175-1554175
GRCh38: 17:1650881-1650881
6 PRPF8 NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro) SNV Pathogenic 3356 rs121434236 GRCh37: 17:1554178-1554178
GRCh38: 17:1650884-1650884
7 PRPF8 NM_006445.4(PRPF8):c.6926A>G (p.His2309Arg) SNV Pathogenic 3355 rs121434236 GRCh37: 17:1554178-1554178
GRCh38: 17:1650884-1650884
8 PRPF8 NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) SNV Likely pathogenic 546782 rs1555550617 GRCh37: 17:1558827-1558827
GRCh38: 17:1655533-1655533
9 PRPF8 NM_006445.4(PRPF8):c.6994dup (p.Asp2332fs) Duplication Likely pathogenic 803295 rs1597223214 GRCh37: 17:1554109-1554110
GRCh38: 17:1650815-1650816
10 PRPF8 NM_006445.4(PRPF8):c.6991G>A (p.Glu2331Lys) SNV Likely pathogenic 803296 rs1597223220 GRCh37: 17:1554113-1554113
GRCh38: 17:1650819-1650819
11 PRPF8 NM_006445.4(PRPF8):c.809A>G (p.Asn270Ser) SNV Uncertain significance 930404 GRCh37: 17:1584829-1584829
GRCh38: 17:1681535-1681535
12 PRPF8 NM_006445.4(PRPF8):c.239del (p.Lys80fs) Deletion Uncertain significance 930664 GRCh37: 17:1586857-1586857
GRCh38: 17:1683563-1683563
13 PRPF8 NM_006445.4(PRPF8):c.104G>T (p.Arg35Leu) SNV Uncertain significance 930837 GRCh37: 17:1586992-1586992
GRCh38: 17:1683698-1683698
14 PRPF8 NM_006445.4(PRPF8):c.926G>A (p.Arg309His) SNV Uncertain significance 374176 rs775023296 GRCh37: 17:1584289-1584289
GRCh38: 17:1680995-1680995
15 PRPF8 NM_006445.4(PRPF8):c.1208C>T (p.Ala403Val) SNV Uncertain significance 931934 GRCh37: 17:1582984-1582984
GRCh38: 17:1679690-1679690
16 PRPF8 NM_006445.4(PRPF8):c.690C>T (p.Phe230=) SNV Likely benign 810992 rs200640834 GRCh37: 17:1584948-1584948
GRCh38: 17:1681654-1681654
17 PRPF8 NM_006445.4(PRPF8):c.1099-8T>C SNV Likely benign 811188 rs200865270 GRCh37: 17:1583101-1583101
GRCh38: 17:1679807-1679807
18 PRPF8 NM_006445.4(PRPF8):c.4202+19A>G SNV Likely benign 811191 rs1279339161 GRCh37: 17:1564886-1564886
GRCh38: 17:1661592-1661592
19 PRPF8 NM_006445.4(PRPF8):c.6108A>G (p.Gln2036=) SNV Likely benign 811808 rs373131838 GRCh37: 17:1557190-1557190
GRCh38: 17:1653896-1653896
20 PRPF8 NM_006445.4(PRPF8):c.6504C>T (p.Tyr2168=) SNV Likely benign 812057 rs753995574 GRCh37: 17:1554948-1554948
GRCh38: 17:1651654-1651654
21 PRPF8 NM_006445.4(PRPF8):c.2493C>G (p.Ser831=) SNV Benign 321903 rs146749363 GRCh37: 17:1579560-1579560
GRCh38: 17:1676266-1676266
22 PRPF8 NM_006445.4(PRPF8):c.434+18A>C SNV Benign 810962 rs72820383 GRCh37: 17:1585405-1585405
GRCh38: 17:1682111-1682111
23 PRPF8 NM_006445.4(PRPF8):c.5469C>T (p.His1823=) SNV Benign 321879 rs115404141 GRCh37: 17:1561583-1561583
GRCh38: 17:1658289-1658289
24 PRPF8 NM_006445.4(PRPF8):c.4011A>G (p.Gln1337=) SNV Benign 321886 rs118000367 GRCh37: 17:1565211-1565211
GRCh38: 17:1661917-1661917
25 PRPF8 NM_006445.4(PRPF8):c.435-6T>G SNV Benign 321919 rs75026252 GRCh37: 17:1585338-1585338
GRCh38: 17:1682044-1682044
26 PRPF8 NM_006445.4(PRPF8):c.3299+14T>C SNV Benign 321893 rs16951071 GRCh37: 17:1577722-1577722
GRCh38: 17:1674428-1674428
27 PRPF8 NM_006445.4(PRPF8):c.1855-13C>T SNV Benign 321908 rs16951135 GRCh37: 17:1581001-1581001
GRCh38: 17:1677707-1677707
28 PRPF8 NM_006445.4(PRPF8):c.2631G>A (p.Ala877=) SNV Benign 321901 rs35420265 GRCh37: 17:1579270-1579270
GRCh38: 17:1675976-1675976
29 PRPF8 NM_006445.4(PRPF8):c.6247C>T (p.Leu2083=) SNV Benign 321876 rs34341522 GRCh37: 17:1556958-1556958
GRCh38: 17:1653664-1653664
30 PRPF8 NM_006445.4(PRPF8):c.6854-4G>A SNV Benign 321870 rs75996323 GRCh37: 17:1554254-1554254
GRCh38: 17:1650960-1650960

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 13:

72
# Symbol AA change Variation ID SNP ID
1 PRPF8 p.Pro2301Thr VAR_022626 rs121434239
2 PRPF8 p.Phe2304Leu VAR_022627 rs121434240
3 PRPF8 p.His2309Pro VAR_022628 rs121434236
4 PRPF8 p.His2309Arg VAR_022629 rs121434236
5 PRPF8 p.Arg2310Gly VAR_022630
6 PRPF8 p.Arg2310Lys VAR_022631 rs121434238
7 PRPF8 p.Phe2314Leu VAR_022632
8 PRPF8 p.Tyr2334Asn VAR_022633

Expression for Retinitis Pigmentosa 13

Search GEO for disease gene expression data for Retinitis Pigmentosa 13.

Pathways for Retinitis Pigmentosa 13

Pathways related to Retinitis Pigmentosa 13 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 SNRNP200 RP9 PRPF8 PRPF6 PRPF31 PRPF3
2 10.65 SNRNP200 PRPF8 PRPF6 EFTUD2

GO Terms for Retinitis Pigmentosa 13

Cellular components related to Retinitis Pigmentosa 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear speck GO:0016607 9.73 PRPF8 PRPF6 PRPF31 PRPF3 LUC7L2 EFTUD2
2 spliceosomal complex GO:0005681 9.63 SNRNP200 PRPF8 PRPF6 PRPF31 PRPF3 EFTUD2
3 catalytic step 2 spliceosome GO:0071013 9.62 SNRNP200 PRPF8 PRPF6 EFTUD2
4 Cajal body GO:0015030 9.58 PRPF31 PRPF3 EFTUD2
5 U5 snRNP GO:0005682 9.54 SNRNP200 PRPF8 PRPF6
6 U2-type catalytic step 2 spliceosome GO:0071007 9.48 PRPF8 EFTUD2
7 Golgi cis cisterna GO:0000137 9.46 GOLGA8M GOLGA8K
8 U2-type catalytic step 1 spliceosome GO:0071006 9.43 SNRNP200 PRPF8
9 U2-type precatalytic spliceosome GO:0071005 9.43 SNRNP200 PRPF8 PRPF6 PRPF31 PRPF3 EFTUD2
10 U4/U6 x U5 tri-snRNP complex GO:0046540 9.1 SNRNP200 PRPF8 PRPF6 PRPF31 PRPF3 EFTUD2

Biological processes related to Retinitis Pigmentosa 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.73 SNRNP200 PRPF8 PRPF6 PRPF31 PRPF3 EFTUD2
2 mRNA splicing, via spliceosome GO:0000398 9.63 SNRNP200 PRPF8 PRPF6 PRPF31 PRPF3 EFTUD2
3 RNA splicing, via transesterification reactions GO:0000375 9.5 PRPF8 PRPF6 PRPF3
4 spliceosomal tri-snRNP complex assembly GO:0000244 9.26 PRPF8 PRPF6 PRPF31 PRPF3
5 RNA splicing GO:0008380 9.17 SNRNP200 RP9 PRPF8 PRPF6 PRPF31 PRPF3

Molecular functions related to Retinitis Pigmentosa 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.28 SNRNP200 RPGR RP9 PRPF8 PRPF6 PRPF31
2 U5 snRNA binding GO:0030623 8.96 PRPF8 EFTUD2

Sources for Retinitis Pigmentosa 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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