HsaEX0030116 @ hg38
Exon Skipping
Gene
ENSG00000204632 | HLA-G
Description
major histocompatibility complex, class I, G [Source:HGNC Symbol;Acc:HGNC:4964]
Coordinates
chr6:29828047-29829693:+
Coord C1 exon
chr6:29828047-29828316
Coord A exon
chr6:29828543-29828818
Coord C2 exon
chr6:29829418-29829693
Length
276 bp
Sequences
Splice sites
3' ss Seq
GACCGAGGGGGTGGGGCCAGGTT
3' ss Score
-2.66
5' ss Seq
CGGGTACCA
5' ss Score
3.25
Exon sequences
Seq C1 exon
GCTCCCACTCCATGAGGTATTTCAGCGCCGCCGTGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCCATGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACTCGGCGTGTCCGAGGATGGAGCCGCGGGCGCCGTGGGTGGAGCAGGAGGGGCCGGAGTATTGGGAAGAGGAGACACGGAACACCAAGGCCCACGCACAGACTGACAGAATGAACCTGCAGACCCTGCGCGGCTACTACAACCAGAGCGAGGCCA
Seq A exon
GTTCTCACACCCTCCAGTGGATGATTGGCTGCGACCTGGGGTCCGACGGACGCCTCCTCCGCGGGTATGAACAGTATGCCTACGATGGCAAGGATTACCTCGCCCTGAACGAGGACCTGCGCTCCTGGACCGCAGCGGACACTGCGGCTCAGATCTCCAAGCGCAAGTGTGAGGCGGCCAATGTGGCTGAACAAAGGAGAGCCTACCTGGAGGGCACGTGCGTGGAGTGGCTCCACAGATACCTGGAGAACGGGAAGGAGATGCTGCAGCGCGCGG
Seq C2 exon
ACCCCCCCAAGACACACGTGACCCACCACCCTGTCTTTGACTATGAGGCCACCCTGAGGTGCTGGGCCCTGGGCTTCTACCCTGCGGAGATCATACTGACCTGGCAGCGGGATGGGGAGGACCAGACCCAGGACGTGGAGCTCGTGGAGACCAGGCCTGCAGGGGATGGAACCTTCCAGAAGTGGGCAGCTGTGGTGGTGCCTTCTGGAGAGGAGCAGAGATACACGTGCCATGTGCAGCATGAGGGGCTGCCGGAGCCCCTCATGCTGAGATGGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204632_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.341 A=0.054 C2=0.194
Domain overlap (PFAM):
C1:
PF0012913=MHC_I=PU(50.3=98.9)
A:
PF0012913=MHC_I=PD(49.2=94.6)
C2:
PF0012913=MHC_I=PD(8.1=8.6),PF0765410=C1-set=WD(100=91.4)
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCGGAGTATTGGGAAGAGGA
R:
CTGCCCACTTCTGGAAGGTTC
Band lengths:
293-569
Functional annotations
There are 2 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
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development