Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10594
Gene name Gene Name - the full gene name approved by the HGNC.	Pre-mRNA processing factor 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PRPF8
Synonyms (NCBI Gene) Gene synonyms aliases	HPRP8, PRP8, PRPC8, RP13, SNRNP220
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains s

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141456140	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs144851263	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147958141	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs387906971	G>A	Pathogenic	Coding sequence variant, missense variant
rs758937794	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs878853387	TGAGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1176869304	CTT>-	Pathogenic	Coding sequence variant, inframe deletion
rs1555550617	C>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(127)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052002	hsa-let-7b-5p	CLASH	23622248
MIRT052002	hsa-let-7b-5p	CLASH	23622248
MIRT052002	hsa-let-7b-5p	CLASH	23622248
MIRT051751	hsa-let-7c-5p	CLASH	23622248
MIRT051624	hsa-let-7e-5p	CLASH	23622248
MIRT051064	hsa-miR-16-5p	CLASH	23622248
MIRT050953	hsa-miR-17-5p	CLASH	23622248
MIRT050298	hsa-miR-25-3p	CLASH	23622248
MIRT049654	hsa-miR-92a-3p	CLASH	23622248
MIRT048808	hsa-miR-93-5p	CLASH	23622248
MIRT048342	hsa-miR-106a-5p	CLASH	23622248
MIRT048232	hsa-miR-196a-5p	CLASH	23622248
MIRT047660	hsa-miR-10a-5p	CLASH	23622248
MIRT047439	hsa-miR-10b-5p	CLASH	23622248
MIRT046232	hsa-miR-27b-3p	CLASH	23622248
MIRT045825	hsa-miR-140-5p	CLASH	23622248
MIRT045253	hsa-miR-186-5p	CLASH	23622248
MIRT044089	hsa-miR-361-5p	CLASH	23622248
MIRT044089	hsa-miR-361-5p	CLASH	23622248
MIRT043237	hsa-miR-324-5p	CLASH	23622248
MIRT042093	hsa-miR-484	CLASH	23622248
MIRT041232	hsa-miR-193b-3p	CLASH	23622248
MIRT039792	hsa-miR-615-3p	CLASH	23622248
MIRT039792	hsa-miR-615-3p	CLASH	23622248
MIRT038822	hsa-miR-93-3p	CLASH	23622248
MIRT038451	hsa-miR-296-3p	CLASH	23622248
MIRT037930	hsa-miR-532-3p	CLASH	23622248
MIRT439893	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439892	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT439891	hsa-miR-381-3p	HITS-CLIP	24374217
MIRT439893	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439892	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT439891	hsa-miR-381-3p	HITS-CLIP	24374217
MIRT1265889	hsa-miR-1207-5p	CLIP-seq
MIRT1265890	hsa-miR-1231	CLIP-seq
MIRT1265891	hsa-miR-1234	CLIP-seq
MIRT1265892	hsa-miR-1324	CLIP-seq
MIRT1265893	hsa-miR-1827	CLIP-seq
MIRT1265894	hsa-miR-2467-5p	CLIP-seq
MIRT1265895	hsa-miR-3065-5p	CLIP-seq
MIRT1265896	hsa-miR-3120-5p	CLIP-seq
MIRT1265897	hsa-miR-3153	CLIP-seq
MIRT1265898	hsa-miR-3184	CLIP-seq
MIRT1265899	hsa-miR-3188	CLIP-seq
MIRT1265900	hsa-miR-3612	CLIP-seq
MIRT1265901	hsa-miR-3926	CLIP-seq
MIRT1265902	hsa-miR-3929	CLIP-seq
MIRT1265903	hsa-miR-3975	CLIP-seq
MIRT1265904	hsa-miR-423-5p	CLIP-seq
MIRT1265905	hsa-miR-4419b	CLIP-seq
MIRT1265906	hsa-miR-4421	CLIP-seq
MIRT1265907	hsa-miR-4433	CLIP-seq
MIRT1265908	hsa-miR-4459	CLIP-seq
MIRT1265909	hsa-miR-4478	CLIP-seq
MIRT1265910	hsa-miR-4649-3p	CLIP-seq
MIRT1265911	hsa-miR-4656	CLIP-seq
MIRT1265912	hsa-miR-4665-3p	CLIP-seq
MIRT1265913	hsa-miR-4695-5p	CLIP-seq
MIRT1265914	hsa-miR-4722-5p	CLIP-seq
MIRT1265915	hsa-miR-4731-3p	CLIP-seq
MIRT1265916	hsa-miR-4763-3p	CLIP-seq
MIRT1265917	hsa-miR-4768-3p	CLIP-seq
MIRT1265918	hsa-miR-4801	CLIP-seq
MIRT1265919	hsa-miR-485-5p	CLIP-seq
MIRT1265920	hsa-miR-505	CLIP-seq
MIRT1265921	hsa-miR-516b	CLIP-seq
MIRT1265922	hsa-miR-583	CLIP-seq
MIRT1265923	hsa-miR-650	CLIP-seq
MIRT1265924	hsa-miR-940	CLIP-seq
MIRT1265892	hsa-miR-1324	CLIP-seq
MIRT1265895	hsa-miR-3065-5p	CLIP-seq
MIRT1265897	hsa-miR-3153	CLIP-seq
MIRT1265901	hsa-miR-3926	CLIP-seq
MIRT1265907	hsa-miR-4433	CLIP-seq
MIRT1265908	hsa-miR-4459	CLIP-seq
MIRT1265915	hsa-miR-4731-3p	CLIP-seq
MIRT1265917	hsa-miR-4768-3p	CLIP-seq
MIRT1265918	hsa-miR-4801	CLIP-seq
MIRT1265920	hsa-miR-505	CLIP-seq
MIRT1265922	hsa-miR-583	CLIP-seq
MIRT1265890	hsa-miR-1231	CLIP-seq
MIRT1265891	hsa-miR-1234	CLIP-seq
MIRT1265892	hsa-miR-1324	CLIP-seq
MIRT1265894	hsa-miR-2467-5p	CLIP-seq
MIRT1265895	hsa-miR-3065-5p	CLIP-seq
MIRT1265896	hsa-miR-3120-5p	CLIP-seq
MIRT1265897	hsa-miR-3153	CLIP-seq
MIRT1265898	hsa-miR-3184	CLIP-seq
MIRT1265899	hsa-miR-3188	CLIP-seq
MIRT1265901	hsa-miR-3926	CLIP-seq
MIRT1265903	hsa-miR-3975	CLIP-seq
MIRT1265904	hsa-miR-423-5p	CLIP-seq
MIRT1265906	hsa-miR-4421	CLIP-seq
MIRT1265907	hsa-miR-4433	CLIP-seq
MIRT1265908	hsa-miR-4459	CLIP-seq
MIRT1265910	hsa-miR-4649-3p	CLIP-seq
MIRT1265911	hsa-miR-4656	CLIP-seq
MIRT1265912	hsa-miR-4665-3p	CLIP-seq
MIRT1265915	hsa-miR-4731-3p	CLIP-seq
MIRT1265917	hsa-miR-4768-3p	CLIP-seq
MIRT1265918	hsa-miR-4801	CLIP-seq
MIRT1265919	hsa-miR-485-5p	CLIP-seq
MIRT1265920	hsa-miR-505	CLIP-seq
MIRT1265921	hsa-miR-516b	CLIP-seq
MIRT1265922	hsa-miR-583	CLIP-seq
MIRT1265892	hsa-miR-1324	CLIP-seq
MIRT1265895	hsa-miR-3065-5p	CLIP-seq
MIRT1265897	hsa-miR-3153	CLIP-seq
MIRT1265901	hsa-miR-3926	CLIP-seq
MIRT1265907	hsa-miR-4433	CLIP-seq
MIRT1265908	hsa-miR-4459	CLIP-seq
MIRT1265915	hsa-miR-4731-3p	CLIP-seq
MIRT1265917	hsa-miR-4768-3p	CLIP-seq
MIRT1265918	hsa-miR-4801	CLIP-seq
MIRT1265920	hsa-miR-505	CLIP-seq
MIRT1265922	hsa-miR-583	CLIP-seq
MIRT1265892	hsa-miR-1324	CLIP-seq
MIRT1265895	hsa-miR-3065-5p	CLIP-seq
MIRT1265897	hsa-miR-3153	CLIP-seq
MIRT1265901	hsa-miR-3926	CLIP-seq
MIRT1265907	hsa-miR-4433	CLIP-seq
MIRT1265908	hsa-miR-4459	CLIP-seq
MIRT1265915	hsa-miR-4731-3p	CLIP-seq
MIRT1265917	hsa-miR-4768-3p	CLIP-seq
MIRT1265918	hsa-miR-4801	CLIP-seq
MIRT1265920	hsa-miR-505	CLIP-seq
MIRT1265922	hsa-miR-583	CLIP-seq

Show/Hide all(46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IBA
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IDA	20595234
GO:0000375	Process	RNA splicing, via transesterification reactions	TAS	9774689
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	28781166, 29301961
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	30975767
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	9774689, 16723661, 17332742, 18951082, 20696395, 22365833, 22720776, 23704370, 23793891, 26711270, 27173435, 28514442, 30021884, 32814053, 33961781, 35271311, 39251607
GO:0005634	Component	Nucleus	IDA	22720776, 28781166, 29301961
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	30975767
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	IPI	30975767
GO:0005682	Component	U5 snRNP	IBA
GO:0005682	Component	U5 snRNP	TAS	9774689
GO:0006397	Process	MRNA processing	IEA
GO:0006397	Process	MRNA processing	TAS	9774689
GO:0008233	Function	Peptidase activity	IKR	17559875
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	TAS	9774689
GO:0016020	Component	Membrane	HDA	19946888
GO:0016607	Component	Nuclear speck	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0017070	Function	U6 snRNA binding	IBA
GO:0017070	Function	U6 snRNA binding	IEA
GO:0030532	Component	Small nuclear ribonucleoprotein complex	IEA
GO:0030619	Function	U1 snRNA binding	IBA
GO:0030620	Function	U2 snRNA binding	IBA
GO:0030623	Function	U5 snRNA binding	IBA
GO:0030623	Function	U5 snRNA binding	IEA
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IDA	23793891
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IPI	30975767
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IDA	20595234
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	28781166, 29361316, 30315277
GO:0071006	Component	U2-type catalytic step 1 spliceosome	IDA	29301961
GO:0071007	Component	U2-type catalytic step 2 spliceosome	IDA	28076346
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0097157	Function	Pre-mRNA intronic binding	IBA
GO:0140492	Function	Metal-dependent deubiquitinase activity	IKR	17559875
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
607300	17340	ENSG00000174231

Protein

UniProt ID

Q6P2Q9

Protein name

Pre-mRNA-processing-splicing factor 8 (220 kDa U5 snRNP-specific protein) (PRP8 homolog) (Splicing factor Prp8) (p220)

Protein function

Plays a role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes, both of the predominant U2-type spliceosome and the minor U12-type spliceosome (PubMed:10411133, PubMed:11971955, PubMed:280

PDB

3E9L , 3ENB , 3JCR , 3LRU , 4JK7 , 4JK8 , 4JK9 , 4JKA , 4JKB , 4JKC , 4JKD , 4JKE , 4JKF , 4JKG , 4JKH , 4KIT , 5MQF , 5O9Z , 5XJC , 5YZG , 5Z56 , 5Z57 , 5Z58 , 6AH0 , 6AHD , 6FF4 , 6FF7 , 6ICZ , 6ID0 , 6ID1 , 6QDV , 6QW6 , 6QX9 , 6S8Q , 6S9I , 6ZYM , 7A5P , 7AAV , 7ABF , 7ABG , 7ABI , 7BDI , 7BDJ , 7BDK , 7BDL , 7DVQ , 7OS2 , 7PJH , 7PX3 , 7QTT , 7W59

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08082	PRO8NT	58 → 209	PRO8NT (NUC069), PrP8 N-terminal domain	Domain
PF08083	PROCN	395 → 801	PROCN (NUC071) domain	Domain
PF10598	RRM_4	986 → 1077	RNA recognition motif of the spliceosomal PrP8	Domain
PF10597	U5_2-snRNA_bdg	1210 → 1343	U5-snRNA binding site 2 of PrP8	Domain
PF10596	U6-snRNA_bdg	1442 → 1600	U6-snRNA interacting domain of PrP8	Domain
PF12134	PRP8_domainIV	1760 → 1989	PRP8 domain IV core	Domain
PF01398	JAB	2099 → 2205	JAB1/Mov34/MPN/PAD-1 ubiquitin protease	Family
PF08084	PROCT	2212 → 2333	PROCT (NUC072) domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10411133}.

Sequence

MAGVFPYRGPGNPVPGPLAPLPDYMSEEKLQEKARKWQQLQAKRYAEKRKFGFVDAQKED
MPPEHVRKIIRDHGDMTNRKFRHDKRVYLGALKYMPHAVLKLLENMPMPWEQIRDVPVLY
HITGAISFVNEIPWVIEPVYISQWGSMWIMMRREKRDRRHFKRMRFPPFDDEEPPLDYAD
NILDVEPLEAIQLELDPEEDAPVLDWFYDHQPLRDSRKYVNGSTYQRWQFTLPMMSTLYR
LANQLLTDLVDDNYFYLFDLKAFFTSKALNMAIPGGPKFEPLVRDINLQDEDWNEFNDIN
KIIIRQPIRTEYKIAFPYLYNNLPHHVHLTWYHTPNVVFIKTEDPDLPAFYFDPLINPIS
HRHSVKSQEPLPDDDEEFELPEFVEPFLKDTPLYTDNTANGIALLWAPRPFNLRSGRTRR
ALDIPLVKNWYREHCPAGQPVKVRVSYQKLLKYYVLNALKHRPPKAQKKRYLFRSFKATK
FFQSTKLDWVEVGLQVCRQGYNMLNLLIHRKNLNYLHLDYNFNLKPVKTLTTKERKKSRF
GNAFHLCREVLRLTKLVVDSHVQYRLGNVDAFQLADGLQYIFAHVGQLTGMYRYKYKLMR
QIRMCKDLKHLIYYRFNTGPVGKGPGCGFWAAGWRVWLFFMRGITPLLERWLGNLLARQF
EGRHSKGVAKTVTKQRVESHFDLELRAAVMHDILDMMPEGIKQNKARTILQHLSEAWRCW
KANIPWKVPGLPTPIENMILRYVKAKADWWTNTAHYNRERIRRGATVDKTVCKKNLGRLT
RLYLKAEQERQHNYLKDGPYITAEEAVAVYTTTVHWLESRRFSPIPFPPLSYKHDTKLLI
LALERLKEAYSVKSRLNQSQREELGLIEQAYDNPHEALSRIKRHLLTQRAFKEVGIEFMD
LYSHLVPVYDVEPLEKITDAYLDQYLWYEADKRRLFPPWIKPADTEPPPLLVYKWCQGIN
NLQDVWETSEGECNVMLESRFEKMYEKIDLTLLNRLLRLIVDHNIADYMTAKNNVVINYK
DMNHTNSYGIIRGLQFASFIVQYYGLVMDLLVLGLHRASEMAGPPQMPNDFLSFQDIATE
AAHPIRLFCRYIDRIHIFFRFTADEARDLIQRYLTEHPDPNNENIVGYNNKKCWPRDARM
RLMKHDVNLGRAVFWDIKNRLPRSVTTVQWENSFVSVYSKDNPNLLFNMCGFECRILPKC
RTSYEEFTHKDGVWNLQNEVTKERTAQCFLRVDDESMQRFHNRVRQILMASGSTTFTKIV
NKWNTALIGLMTYFREAVVNTQELLDLLVKCENKIQTRIKIGLNSKMPSRFPPVVFYTPK
ELGGLGMLSMGHVLIPQSDLRWSKQTDVGITHFRSGMSHEEDQLIPNLYRYIQPWESEFI
DSQRVWAEYALKRQEAIAQNRRLTLEDLEDSWDRGIPRINTLFQKDRHTLAYDKGWRVRT
DFKQYQVLKQNPFWWTHQRHDGKLWNLNNYRTDMIQALGGVEGILEHTLFKGTYFPTWEG
LFWEKASGFEESMKWKKLTNAQRSGLNQIPNRRFTLWWSPTINRANVYVGFQVQLDLTGI
FMHGKIPTLKISLIQIFRAHLWQKIHESIVMDLCQVFDQELDALEIETVQKETIHPRKSY
KMNSSCADILLFASYKWNVSRPSLLADSKDVMDSTTTQKYWIDIQLRWGDYDSHDIERYA
RAKFLDYTTDNMSIYPSPTGVLIAIDLAYNLHSAYGNWFPGSKPLIQQAMAKIMKANPAL
YVLRERIRKGLQLYSSEPTEPYLSSQNYGELFSNQIIWFVDDTNVYRVTIHKTFEGNLTT
KPINGAIFIFNPRTGQLFLKIIHTSVWAGQKRLGQLAKWKTAEEVAALIRSLPVEEQPKQ
IIVTRKGMLDPLEVHLLDFPNIVIKGSELQLPFQACLKVEKFGDLILKATEPQMVLFNLY
DDWLKTISSYTAFSRLILILRALHVNNDRAKVILKPDKTTITEPHHIWPTLTDEEWIKVE
VQLKDLILADYGKKNNVNVASLTQSEIRDIILGMEISAPSQQRQQIAEIEKQTKEQSQLT
ATQTRTVNKHGDEIITSTTSNYETQTFSSKTEWRVRAISAANLHLRTNHIYVSSDDIKET
GYTYILPKNVLKKFICISDLRAQIAGYLYGVSPPDNPQVKEIRCIVMVPQWGTHQTVHLP
GQLPQHEYLKEMEPLGWIHTQPNESPQLSPQDVTTHAKIMADNPSWDGEKTIIITCSFTP
GSCTLTAYKLTPSGYEWGRQNTDKGNNPKGYLPSHYERVQMLLSDRFLGFFMVPAQSSWN
YNFMGVRHDPNMKYELQLANPKEFYHEVHRPSHFLNFALLQEGEVYSADREDLYA

Sequence length

2335

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
retinal dystrophy	Retinal dystrophy	rs878853387, rs1193604660, rs121434239, rs121434236, rs1911391944, rs752997229, rs121434238, rs1555550617	N/A
Retinitis Pigmentosa	retinitis pigmentosa 13, retinitis pigmentosa	rs387906971, rs1597223214, rs1911001854, rs1176869304, rs121434236, rs1064797215, rs752997229, rs121434238, rs121434239, rs1555550617, rs121434240	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Anterior segment dysgenesis	Irido-corneo-trabecular dysgenesis	N/A	N/A	ClinVar
Glaucoma	glaucoma	N/A	N/A	GenCC
Ischemic Stroke	Ischemic stroke	N/A	N/A	GWAS
Neurodevelopmental Disorders	neurodevelopmental disorder	N/A	N/A	GenCC

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Breast Neoplasms	Associate	29023197, 32365829, 35124606
Carcinoid Tumor	Associate	38049848
Carcinoma Basal Cell	Associate	28878028
Carcinoma Hepatocellular	Stimulate	36609600
Craniopharyngioma	Associate	40581690
Diabetes Mellitus Type 2	Associate	34545810
Disease	Associate	33712029
Genetic Diseases Inborn	Associate	26392272
Glaucoma	Associate	28707069
Glaucoma Open Angle	Associate	28707069
Insulin Resistance	Associate	34545810
Leukemia Myeloid Acute	Associate	24781015, 27983727
Myelodysplastic Syndromes	Associate	24220272
Neoplasm Metastasis	Associate	35124606
Neoplasms	Associate	24781015, 26392272, 29023197, 35896598, 36627144, 38049848
Neoplasms	Inhibit	26371515, 40581690
Neoplasms	Stimulate	36609600
Night Blindness	Associate	40022903
Ovarian Neoplasms	Associate	32690086
Pancreatic Intraductal Neoplasms	Associate	22355676
Personality Disorders	Stimulate	36609600
Prostatic Neoplasms	Associate	26371515
Prostatic Neoplasms Castration Resistant	Inhibit	26371515
Retinal Diseases	Associate	16799052, 39795970
Retinal Dystrophies	Associate	27391102, 28761320, 33712029
Retinitis Pigmentosa	Associate	15994872, 16799052, 17317632, 17934474, 19098916, 20232351, 21378395, 23559859, 23950152, 24969741, 26392272, 26968627, 28045043, 28076437, 28515276 View all (11 more)
Ring Chromosomes	Associate	24781015
Triple Negative Breast Neoplasms	Associate	28878028
Uveitis Intermediate	Associate	36685344
Vision Disorders	Associate	40022903
von Hippel Lindau Disease	Associate	10535940

PRPF8 (pre-mRNA processing factor 8)