HsaEX1016886 @ hg38
Exon Skipping
Gene
ENSG00000204525 | HLA-C
Description
major histocompatibility complex, class I, C [Source:HGNC Symbol;Acc:HGNC:4933]
Coordinates
chr6:31269493-31272050:-
Coord C1 exon
chr6:31271073-31272050
Coord A exon
chr6:31270210-31270485
Coord C2 exon
chr6:31269493-31270085
Length
276 bp
Sequences
Splice sites
3' ss Seq
TTTCTGACTCTTCCCGTCAGAAC
3' ss Score
7.9
5' ss Seq
GGGGTAAGG
5' ss Score
8.05
Exon sequences
Seq C1 exon
GTCACGACCCCTCCCCATCCCCCACGGACGGCCCGGGTCGCCCAGAGTCTCCCCGTCTGAGATCCACCCCAAGGTGGATCTGCGGAACCCGCCCAGACCCTCGACCGGAGAGAGCCCCAGTCGCCTTTACCCGGTTTCATTTTCGGTTTAGGCCAAAATCCCCGCGGGTTGGTCGGGGCGGGGCGGGGCTCGGGGGACTGGGCTGACCGCGGGGGCGGGGCCAGGGTCTCACACCCTCCAGAGGATGTCTGGCTGCGACCTGGGGCCCGACGGGCGCCTCCTCCGCGGGTATGACCAGTCCGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCCTGGACCGCCGCGGACACCGCGGCTCAGATCACCCAGCGCAAGTTGGAGGCGGCCCGTGCGGCGGAGCAGCTGAGAGCCTACCTGGAGGGCACGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCAG
Seq A exon
AACCCCCAAAGACACACGTGACCCACCACCCCCTCTCTGACCATGAGGCCACCCTGAGGTGCTGGGCCCTGGGCTTCTACCCTGCGGAGATCACACTGACCTGGCAGCGGGATGGGGAGGACCAGACCCAGGACACCGAGCTTGTGGAGACCAGGCCAGCAGGAGATGGAACCTTCCAGAAGTGGGCAGCTGTGGTGGTGCCTTCTGGACAAGAGCAGAGATACACGTGCCATATGCAGCACGAGGGGCTGCAAGAGCCCCTCACCCTGAGCTGGG
Seq C2 exon
AGCCATCTTCCCAGCCCACCATCCCCATCATGGGCATCGTTGCTGGCCTGGCTGTCCTGGTTGTCCTAGCTGTCCTTGGAGCTGTGGTCACCGCTATGATGTGTAGGAGGAAGAGCTCAGGTAGGGAAGGGGTGAAGAGCGGGGTCTGGGTTTTCTTGTCCCACTGGGAGTTTCAAGCCCCAGGTAGAAGTGTGCCCCGCCTTGTTACTGGAAGCACCATCCACACATGGGCCATCCCAGCCTGGGACCCTGTGTGCCAGCACTTACTCTTTTGTGAAGCACATGTGACAATGAAGGACGGATGTATCACCTTGATGATTATGGTGTTGGGGTCCTGATTCCAGCATTCATGAGTCAGGGGAAGGTCCCTGCTAAGGACAGACCTTAGGAGGGCAGTTGGTCCAGAACCCACAACTGCTTTCCCCATGTTTCCTGATCCTGCCCTGGGTCTGCAGTCGTAGTTCTGGAAACTTCTCTTGGGTCCAAGACTAGGAGGTTCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204525-'9-17,'9-12,16-17
Average complexity
S
Mappability confidence:
100%=83=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.202 A=0.410 C2=0.018
Domain overlap (PFAM):
C1:
PF0012913=MHC_I=PD(49.2=94.6)
A:
PF0765410=C1-set=WD(100=93.5)
C2:
PF126692=P12=FE(27.4=100),PF066236=MHC_I_C=PU(44.8=72.2)
Other Skipping Isoforms:
NA
Associated events
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:
TTACATCGCCCTGAACGAGGA
R:
CCCTACCTGAGCTCTTCCTCC
Band lengths:
308-584
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains