HsaEX6046110 @ hg38
Exon Skipping
Gene
ENSG00000206503 | HLA-A
Description
major histocompatibility complex, class I, A [Source:HGNC Symbol;Acc:HGNC:4931]
Coordinates
chr6:29943268-29944616:+
Coord C1 exon
chr6:29943268-29943543
Coord A exon
chr6:29944122-29944397
Coord C2 exon
chr6:29944500-29944616
Length
276 bp
Sequences
Splice sites
3' ss Seq
TTTCTGACTCTTCCCGTCAGACC
3' ss Score
7.9
5' ss Seq
GGGGTAAGG
5' ss Score
8.05
Exon sequences
Seq C1 exon
GTTCTCACACCATCCAGATAATGTATGGCTGCGACGTGGGGTCGGACGGGCGCTTCCTCCGCGGGTACCGGCAGGACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCTTGGACCGCGGCGGACATGGCGGCTCAGATCACCAAGCGCAAGTGGGAGGCGGCCCATGAGGCGGAGCAGTTGAGAGCCTACCTGGATGGCACGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCACGG
Seq A exon
ACCCCCCCAAGACACATATGACCCACCACCCCATCTCTGACCATGAGGCCACCCTGAGGTGCTGGGCCCTGGGCTTCTACCCTGCGGAGATCACACTGACCTGGCAGCGGGATGGGGAGGACCAGACCCAGGACACGGAGCTCGTGGAGACCAGGCCTGCAGGGGATGGAACCTTCCAGAAGTGGGCGGCTGTGGTGGTGCCTTCTGGAGAGGAGCAGAGATACACCTGCCATGTGCAGCATGAGGGTCTGCCCAAGCCCCTCACCCTGAGATGGG
Seq C2 exon
AGCTGTCTTCCCAGCCCACCATCCCCATCGTGGGCATCATTGCTGGCCTGGTTCTCCTTGGAGCTGTGATCACTGGAGCTGTGGTCGCTGCCGTGATGTGGAGGAGGAAGAGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000206503-'15-25,'15-20,23-25
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.095 A=0.374 C2=0.021
Domain overlap (PFAM):
C1:
PF0012913=MHC_I=PD(49.2=94.6)
A:
PF0765410=C1-set=WD(100=93.5),PF066236=MHC_I_C=PU(3.6=1.1)
C2:
PF066236=MHC_I_C=PU(3.6=2.2)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTACATCGCCCTGAACGAGGA
R:
CTGAGCTCTTCCTCCTCCACA
Band lengths:
299-575
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains