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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	25766
Gene name	Pre-mRNA processing factor 40B
Gene symbol	PRPF40B
Synonyms (NCBI Gene)	HYPC
Chromosome	12
Chromosome location	12q13.12
Summary	This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and methyl CpG binding protein 2 (MeCP2). Alternative splicing results in different transcript variants. [prov

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016390	hsa-miR-193b-3p	Microarray	20304954
MIRT017362	hsa-miR-335-5p	Microarray	18185580
MIRT1265675	hsa-miR-3146	CLIP-seq
MIRT1265676	hsa-miR-4269	CLIP-seq
MIRT1265677	hsa-miR-4690-5p	CLIP-seq
MIRT2304580	hsa-miR-1827	CLIP-seq
MIRT2393057	hsa-miR-1236	CLIP-seq
MIRT2393058	hsa-miR-134	CLIP-seq
MIRT2393059	hsa-miR-3118	CLIP-seq
MIRT2393060	hsa-miR-3164	CLIP-seq
MIRT2393061	hsa-miR-4254	CLIP-seq
MIRT2393062	hsa-miR-4292	CLIP-seq
MIRT2393063	hsa-miR-4308	CLIP-seq
MIRT2393064	hsa-miR-4522	CLIP-seq
MIRT2393065	hsa-miR-670	CLIP-seq
MIRT2457236	hsa-miR-193a-3p	CLIP-seq
MIRT2457237	hsa-miR-193b	CLIP-seq
MIRT2457238	hsa-miR-326	CLIP-seq
MIRT2457239	hsa-miR-330-5p	CLIP-seq
MIRT2457240	hsa-miR-3663-5p	CLIP-seq
MIRT2457241	hsa-miR-4527	CLIP-seq
MIRT2457242	hsa-miR-4642	CLIP-seq
MIRT2457243	hsa-miR-4717-3p	CLIP-seq
MIRT2457244	hsa-miR-4720-5p	CLIP-seq
MIRT2457245	hsa-miR-4799-3p	CLIP-seq
MIRT2457246	hsa-miR-892b	CLIP-seq
MIRT2393057	hsa-miR-1236	CLIP-seq
MIRT2601609	hsa-miR-1288	CLIP-seq
MIRT2393058	hsa-miR-134	CLIP-seq
MIRT2304580	hsa-miR-1827	CLIP-seq
MIRT2457236	hsa-miR-193a-3p	CLIP-seq
MIRT2457237	hsa-miR-193b	CLIP-seq
MIRT2393059	hsa-miR-3118	CLIP-seq
MIRT2601610	hsa-miR-3127-3p	CLIP-seq
MIRT2601611	hsa-miR-3144-5p	CLIP-seq
MIRT2393060	hsa-miR-3164	CLIP-seq
MIRT2601612	hsa-miR-3169	CLIP-seq
MIRT2457238	hsa-miR-326	CLIP-seq
MIRT2457239	hsa-miR-330-5p	CLIP-seq
MIRT2601613	hsa-miR-335	CLIP-seq
MIRT2601614	hsa-miR-342-3p	CLIP-seq
MIRT2601615	hsa-miR-3591-3p	CLIP-seq
MIRT2601616	hsa-miR-3616-3p	CLIP-seq
MIRT2457240	hsa-miR-3663-5p	CLIP-seq
MIRT2601617	hsa-miR-377	CLIP-seq
MIRT2601618	hsa-miR-3919	CLIP-seq
MIRT2601619	hsa-miR-3925-5p	CLIP-seq
MIRT2393061	hsa-miR-4254	CLIP-seq
MIRT2601620	hsa-miR-4270	CLIP-seq
MIRT2601621	hsa-miR-4283	CLIP-seq
MIRT2393062	hsa-miR-4292	CLIP-seq
MIRT2393063	hsa-miR-4308	CLIP-seq
MIRT2601622	hsa-miR-4441	CLIP-seq
MIRT2601623	hsa-miR-4489	CLIP-seq
MIRT2393064	hsa-miR-4522	CLIP-seq
MIRT2457241	hsa-miR-4527	CLIP-seq
MIRT2457242	hsa-miR-4642	CLIP-seq
MIRT2601624	hsa-miR-4656	CLIP-seq
MIRT2601625	hsa-miR-4667-5p	CLIP-seq
MIRT2601626	hsa-miR-4685-5p	CLIP-seq
MIRT2601627	hsa-miR-4700-5p	CLIP-seq
MIRT2601628	hsa-miR-4715-3p	CLIP-seq
MIRT2457243	hsa-miR-4717-3p	CLIP-seq
MIRT2457244	hsa-miR-4720-5p	CLIP-seq
MIRT2601629	hsa-miR-4721	CLIP-seq
MIRT2601630	hsa-miR-4768-5p	CLIP-seq
MIRT2601631	hsa-miR-4773	CLIP-seq
MIRT2601632	hsa-miR-4780	CLIP-seq
MIRT2601633	hsa-miR-4793-3p	CLIP-seq
MIRT2457245	hsa-miR-4799-3p	CLIP-seq
MIRT2601634	hsa-miR-554	CLIP-seq
MIRT2601635	hsa-miR-604	CLIP-seq
MIRT2601636	hsa-miR-637	CLIP-seq
MIRT2393065	hsa-miR-670	CLIP-seq
MIRT2457246	hsa-miR-892b	CLIP-seq
MIRT2601637	hsa-miR-942	CLIP-seq
MIRT2393057	hsa-miR-1236	CLIP-seq
MIRT2688718	hsa-miR-1266	CLIP-seq
MIRT2601609	hsa-miR-1288	CLIP-seq
MIRT2393058	hsa-miR-134	CLIP-seq
MIRT2457236	hsa-miR-193a-3p	CLIP-seq
MIRT2457237	hsa-miR-193b	CLIP-seq
MIRT2393059	hsa-miR-3118	CLIP-seq
MIRT2688719	hsa-miR-3127-5p	CLIP-seq
MIRT2601611	hsa-miR-3144-5p	CLIP-seq
MIRT2393060	hsa-miR-3164	CLIP-seq
MIRT2601612	hsa-miR-3169	CLIP-seq
MIRT2457238	hsa-miR-326	CLIP-seq
MIRT2457239	hsa-miR-330-5p	CLIP-seq
MIRT2601613	hsa-miR-335	CLIP-seq
MIRT2601615	hsa-miR-3591-3p	CLIP-seq
MIRT2601616	hsa-miR-3616-3p	CLIP-seq
MIRT2457240	hsa-miR-3663-5p	CLIP-seq
MIRT2688720	hsa-miR-3918	CLIP-seq
MIRT2393061	hsa-miR-4254	CLIP-seq
MIRT2601620	hsa-miR-4270	CLIP-seq
MIRT2601621	hsa-miR-4283	CLIP-seq
MIRT2393062	hsa-miR-4292	CLIP-seq
MIRT2393063	hsa-miR-4308	CLIP-seq
MIRT2688721	hsa-miR-4436b-3p	CLIP-seq
MIRT2601622	hsa-miR-4441	CLIP-seq
MIRT2601623	hsa-miR-4489	CLIP-seq
MIRT2688722	hsa-miR-4514	CLIP-seq
MIRT2688723	hsa-miR-4518	CLIP-seq
MIRT2393064	hsa-miR-4522	CLIP-seq
MIRT2457241	hsa-miR-4527	CLIP-seq
MIRT2688724	hsa-miR-4640-5p	CLIP-seq
MIRT2457242	hsa-miR-4642	CLIP-seq
MIRT2601624	hsa-miR-4656	CLIP-seq
MIRT2601625	hsa-miR-4667-5p	CLIP-seq
MIRT2601626	hsa-miR-4685-5p	CLIP-seq
MIRT2688725	hsa-miR-4692	CLIP-seq
MIRT2601627	hsa-miR-4700-5p	CLIP-seq
MIRT2601628	hsa-miR-4715-3p	CLIP-seq
MIRT2457243	hsa-miR-4717-3p	CLIP-seq
MIRT2457244	hsa-miR-4720-5p	CLIP-seq
MIRT2601629	hsa-miR-4721	CLIP-seq
MIRT2688726	hsa-miR-4726-5p	CLIP-seq
MIRT2601632	hsa-miR-4780	CLIP-seq
MIRT2601633	hsa-miR-4793-3p	CLIP-seq
MIRT2457245	hsa-miR-4799-3p	CLIP-seq
MIRT2601634	hsa-miR-554	CLIP-seq
MIRT2601635	hsa-miR-604	CLIP-seq
MIRT2601636	hsa-miR-637	CLIP-seq
MIRT2393065	hsa-miR-670	CLIP-seq
MIRT2457246	hsa-miR-892b	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0003723	Function	RNA binding	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005685	Component	U1 snRNP	IBA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0016363	Component	Nuclear matrix	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0045292	Process	MRNA cis splicing, via spliceosome	IEA
GO:0071004	Component	U2-type prespliceosome	IBA

MIM	HGNC	e!Ensembl
621019	25031	ENSG00000110844

Q6NWY9

Protein name

Pre-mRNA-processing factor 40 homolog B (Huntingtin yeast partner C) (Huntingtin-interacting protein C)

Protein function

May be involved in pre-mRNA splicing.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00397	WW	96 → 123	WW domain	Domain
PF00397	WW	135 → 164	WW domain	Domain
PF01846	FF	278 → 327	FF domain	Family
PF01846	FF	492 → 547	FF domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the striatum and cortex of the brain (at protein level). Highly expressed in testis, fetal kidney and fetal brain. Moderately expressed in pancreas, skeletal muscle, placenta, brain and heart. Weakly expressed in colon, il

Sequence

MMPPPFMPPPGIPPPFPPMGLPPMSQRPPAIPPMPPGILPPMLPPMGAPPPLTQIPGMVP
PMMPGMLMPAVPVTAATAPGADTASSAVAGTGPPRALWSEHVAPDGRIYYYNADDKQSVW
EKPSVLKSKAELLLSQCPWKEYKSDTGKPYYYNNQSKESRWTRPKDLDDLEVLVKQEAAG
KQQQQLPQTLQPQPPQPQPDPPPVPPGPTPVPTGLLEPEPGGSEDCDVLEATQPLEQGFL
QQLEEGPSSSGQHQPQQEEEESKPEPERSGLSWSNREKAKQAFKELLRDKAVPSNASWEQ
AMKMVVTDPRYSALPKLSEKKQAFNAYKAQREKEEKEEARLRAKEAKQTLQHFLEQHERM
TSTTRYRRAEQTFGELEVWAVVPERDRKEVYDDVLFFLAKKEKEQAKQLRRRNIQALKSI
LDGMSSVNFQTTWSQAQQYLMDNPSFAQDHQLQNMDKEDALICFEEHIRALEREEEEERE
RARLRERRQQRKNREAFQTFLDELHETGQLHSMSTWMELYPAVSTDVRFANMLGQPGSTP
LDLFKFYVEELKARFHDEKKIIKDILKDRGFCVEVNTAFEDFAHVISFDKRAAALDAGNI
KLTFNSLLEKAEAREREREKEEARRMRRREAAFRSMLRQAVPALELGTAWEEVRERFVCD
SAFEQITLESERIRLFREFLQVLEQTECQHLHTKGRKHGRKGKKHHHKRSHSPSGSESEE
EELPPPSLRPPKRRRRNPSESGSEPSSSLDSVESGGAALGGRGSPSSHLLGADHGLRKAK
KPKKKTKKRRHKSNSPESETDPEEKAGKESDEKEQEQDKDRELQQAELPNRSPGFGIKKE
KTGWDTSESELSEGELERRRRTLLQQLDDHQ

Sequence length

871

Interactions

View interactions

	KEGG
	Spliceosome

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Hypoxia	Hypoxia	Pubtator	31088860	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31088860	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23645565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26498691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31088860		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	23645565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	31088860	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	CLINVAR_DG	26489029		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26498691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PRPF40B (pre-mRNA processing factor 40B)