full name
poly(U) binding splicing factor 60

synonyms
FIR, RoBPI, SIAHBP1, PUF60, ENSG00000179950

HGNC
HGNC:17042

Entrez Gene
Gene:22827

ENSEMBL
ENSG00000179950
ENSG00000260485

location
chr: 8
start: 144898514
stop: 144911556
strand: -

OMIM
OMIM:604819: PUF60 (Autosomal dominant inheritance)
OMIM:615583: Verheij syndrome

transcripts
NM_001271097.1
NM_001271099.1
NM_001271096.1
NM_001271098.1
NM_014281.4
NM_078480.2
NM_001271100.1
NM_001136033.2

pathways
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Processing of Capped Intron-Containing Pre-mRNA [NCBI:1269688] [REACTOME:R-HSA-72203]
Spliceosome [NCBI:125136] [KEGG:hsa03040] [PUBMED:10978320] [PUBMED:19239890] [PUBMED:19733268] [PUBMED:17537823]
mRNA Splicing [NCBI:1269689] [REACTOME:R-HSA-72172] [PUBMED:12226669]
mRNA Splicing - Major Pathway [NCBI:1269690] [REACTOME:R-HSA-72163]