HsaEX6046105 @ hg38
Exon Skipping
Gene
ENSG00000204632 | HLA-G
Description
major histocompatibility complex, class I, G [Source:HGNC Symbol;Acc:HGNC:4964]
Coordinates
chr6:29828543-29829932:+
Coord C1 exon
chr6:29828543-29828818
Coord A exon
chr6:29829418-29829693
Coord C2 exon
chr6:29829816-29829932
Length
276 bp
Sequences
Splice sites
3' ss Seq
TTTCTGACTCTTCCTTTCAGACC
3' ss Score
10.76
5' ss Seq
GGAGTAAGG
5' ss Score
4.33
Exon sequences
Seq C1 exon
GTTCTCACACCCTCCAGTGGATGATTGGCTGCGACCTGGGGTCCGACGGACGCCTCCTCCGCGGGTATGAACAGTATGCCTACGATGGCAAGGATTACCTCGCCCTGAACGAGGACCTGCGCTCCTGGACCGCAGCGGACACTGCGGCTCAGATCTCCAAGCGCAAGTGTGAGGCGGCCAATGTGGCTGAACAAAGGAGAGCCTACCTGGAGGGCACGTGCGTGGAGTGGCTCCACAGATACCTGGAGAACGGGAAGGAGATGCTGCAGCGCGCGG
Seq A exon
ACCCCCCCAAGACACACGTGACCCACCACCCTGTCTTTGACTATGAGGCCACCCTGAGGTGCTGGGCCCTGGGCTTCTACCCTGCGGAGATCATACTGACCTGGCAGCGGGATGGGGAGGACCAGACCCAGGACGTGGAGCTCGTGGAGACCAGGCCTGCAGGGGATGGAACCTTCCAGAAGTGGGCAGCTGTGGTGGTGCCTTCTGGAGAGGAGCAGAGATACACGTGCCATGTGCAGCATGAGGGGCTGCCGGAGCCCCTCATGCTGAGATGGA
Seq C2 exon
AGCAGTCTTCCCTGCCCACCATCCCCATCATGGGTATCGTTGCTGGCCTGGTTGTCCTTGCAGCTGTAGTCACTGGAGCTGCGGTCGCTGCTGTGCTGTGGAGAAAGAAGAGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204632-'4-9,'4-8,7-9
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.054 A=0.194 C2=0.000
Domain overlap (PFAM):
C1:
PF0012913=MHC_I=PD(49.2=94.6)
A:
PF0012913=MHC_I=PD(8.1=8.6),PF0765410=C1-set=WD(100=91.4)
C2:
PF0012913=MHC_I=PD(8.1=20.0)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGCGGGTATGAACAGTATGCC
R:
CCAGTGACTACAGCTGCAAGG
Band lengths:
293-569
Functional annotations
There are 1 annotated functions for this event
PMID: 11290782
Four membrane-bound (HLA-G1 to -G4) and two soluble (HLA-G5, and -G6) proteins are generated by alternative splicing. Only HLA-G1 has been extensively studied in terms of both expression and function. The authors provide evidence here that HLA-G2, -G3, and -G4 truncated isoforms reach the cell surface of transfected cells, as endoglycosidase H-sensitive glycoproteins, after a 2-h chase period. Moreover, cytotoxicity experiments show that these transfected cells are protected from the lytic activity of both innate (NK cells) and acquired (CTL) effectors, although to slightly different levels. The full-length transcript (HLA-G1) encodes three extracellular domains (alpha1, alpha2, and alpha3), a transmembrane region, and a cytoplasmic tail. Three other spliced transcripts encode membrane-bound proteins that lack alpha2 (HLA-G2; skipping exon 3, HsaEX0030116), alpha3 (HLA-G4; skipping of exon 4, HsaEX6046105), or both the alpha2 and alpha3 domains (HLA-G3).
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains