HsaEX6046248 @ hg38
Exon Skipping
Gene
ENSG00000204525 | HLA-C
Description
major histocompatibility complex, class I, C [Source:HGNC Symbol;Acc:HGNC:4933]
Coordinates
chr6:31268749-31269589:-
Coord C1 exon
chr6:31269489-31269589
Coord A exon
chr6:31269339-31269385
Coord C2 exon
chr6:31268749-31269173
Length
47 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTGTTCTACCCCAGGCA
3' ss Score
9.95
5' ss Seq
AAAGGTGAG
5' ss Score
-18.97
Exon sequences
Seq C1 exon
TTCCCCTAAGATCACATGGCCCTGCCTCCTCCCAGTCCCCTCATAGGGCATTTTCTTCCCACAGGTGGAAAAGGAGGGAGCTGCTCTCAGGCTGCGTGTAA
Seq A exon
GCAGCAACAGTGCCCAGGGCTCTGATGAGTCTCTCATCACTTGTAAA
Seq C2 exon
CCTGAGACAGCTGCCTGTGTGGGACTGAGATGCAGGATTTCTTCACACCTCTCCTTTGTGACTTCAAGAGCCTCTGGCATCTCTTTCTGCAAAGGCACCTGAATGTGTCTGCGTTCCTGTTAGCATAATGTGAGGAGGTGGAGAGACAGCCCACCCCCGTGTCCACCGTGACCCCTGTCCCCACACTGACCTGTGTTCCCTCCCCGATCATCTTTCCTGTTCCAGAGAGGTGGGGCTGGATGTCTCCATCTCTGTCTCAAATTCATGGTGCACTGAGCTGCAACTTCTTACTTCCCTAATGAAGTTAAGAACCTGAATATAAATTTGTGTTCTCAAATATTTGCTATGAAGCGTTGATGGATTAATTAAATAAGTCAATTCCTAGAAGTTGAGAGAGCAAATAAAGACCTGAGAACCTTCCAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204525-'20-26,'20-25,21-26
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
PF126692=P12=PD(23.6=81.2),PF066236=MHC_I_C=FE(51.7=100)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
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:
GGGCATTTTCTTCCCACAGGT
R:
GCCAGAGGCTCTTGAAGTCAC
Band lengths:
134-181
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains