HsaEX6046109 @ hg38
Exon Skipping
Gene
ENSG00000206503 | HLA-A
Description
major histocompatibility complex, class I, A [Source:HGNC Symbol;Acc:HGNC:4931]
Coordinates
chr6:29944122-29945091:+
Coord C1 exon
chr6:29944122-29944397
Coord A exon
chr6:29944500-29944616
Coord C2 exon
chr6:29945059-29945091
Length
117 bp
Sequences
Splice sites
3' ss Seq
ACCTTCCCCTCTTTTCCCAGAGC
3' ss Score
10.92
5' ss Seq
CAGGTGGAG
5' ss Score
2.57
Exon sequences
Seq C1 exon
ACCCCCCCAAGACACATATGACCCACCACCCCATCTCTGACCATGAGGCCACCCTGAGGTGCTGGGCCCTGGGCTTCTACCCTGCGGAGATCACACTGACCTGGCAGCGGGATGGGGAGGACCAGACCCAGGACACGGAGCTCGTGGAGACCAGGCCTGCAGGGGATGGAACCTTCCAGAAGTGGGCGGCTGTGGTGGTGCCTTCTGGAGAGGAGCAGAGATACACCTGCCATGTGCAGCATGAGGGTCTGCCCAAGCCCCTCACCCTGAGATGGG
Seq A exon
AGCTGTCTTCCCAGCCCACCATCCCCATCGTGGGCATCATTGCTGGCCTGGTTCTCCTTGGAGCTGTGATCACTGGAGCTGTGGTCGCTGCCGTGATGTGGAGGAGGAAGAGCTCAG
Seq C2 exon
ATAGAAAAGGAGGGAGTTACACTCAGGCTGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000206503-'23-30,'23-25,25-30
Average complexity
S
Mappability confidence:
100%=80=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.374 A=0.021 C2=0.812
Domain overlap (PFAM):
C1:
PF0765410=C1-set=WD(100=93.5),PF066236=MHC_I_C=PU(3.6=1.1)
A:
PF066236=MHC_I_C=PU(6.9=5.0)
C2:
PF066236=MHC_I_C=FE(39.3=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
CTGAGGTGCTGGGCCCTG
R:
GCCTGAGTGTAACTCCCTCCT
Band lengths:
251-368
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains