full name
splicing factor 3b subunit 4

synonyms
AFD1, Hsh49, SAP49, SF3b49, SF3B4, ENSG00000143368

HGNC
HGNC:10771

Entrez Gene
Gene:10262

ENSEMBL
ENSG00000143368
ENSG00000263977

location
chr: 1
start: 149895209
stop: 149901449
strand: -

OMIM
OMIM:605593: SF3B4 (Autosomal dominant inheritance)
OMIM:154400: Acrofacial dysostosis 1, Nager type

transcripts
NM_005850.4

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]
mRNA Splicing - Minor Pathway [NCBI:1269691] [REACTOME:R-HSA-72165] [PUBMED:10207048] [PUBMED:9149533]