DHX38 (DEAH-box helicase 38)

2007-04-01  

Identity

HGNC
LOCATION
16q22.2
LOCUSID
ALIAS
DDX38,PRP16,PRPF16,RP84
FUSION GENES

Other Information

Locus ID:

NCBI: 9785
MIM: 605584
HGNC: 17211
Ensembl: ENSG00000140829

Variants:

dbSNP: 9785
ClinVar: 9785
TCGA: ENSG00000140829
COSMIC: DHX38

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140829ENST00000268482Q92620
ENSG00000140829ENST00000562774J3KTG2
ENSG00000140829ENST00000563819J3KSA8
ENSG00000140829ENST00000566489H3BV01
ENSG00000140829ENST00000566794H3BQT9
ENSG00000140829ENST00000567142H3BMS7
ENSG00000140829ENST00000579387J3KRT1

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Transcription TerminationREACTOMER-HSA-73856
Cleavage of Growing Transcript in the Termination RegionREACTOMER-HSA-109688
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA 3'-end processingREACTOMER-HSA-72187
Transport of Mature Transcript to CytoplasmREACTOMER-HSA-72202
Transport of Mature mRNA derived from an Intron-Containing TranscriptREACTOMER-HSA-159236

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
247378272014A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.18
302084232018Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.3

Citation

Dessen P

DHX38 (DEAH-box helicase 38)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47336/dhx38