Special

HsaEX0040045 @ hg19

Exon Skipping

Gene
Description
major histocompatibility complex, class I-related [Source:HGNC Symbol;Acc:4975]
Coordinates
chr1:181003139-181022813:+
Coord C1 exon
chr1:181003139-181003210
Coord A exon
chr1:181019147-181019422
Coord C2 exon
chr1:181022709-181022813
Length
276 bp
Sequences
Splice sites
3' ss Seq
GGCTTCTGTGTGTGTTCCAGGGT
3' ss Score
10.08
5' ss Seq
CAGGTAAAG
5' ss Score
9.65
Exon sequences
Seq C1 exon
GGACTATGGGGGAACTGATGGCGTTCCTGTTACCTCTCATCATTGTGTTAATGGTGAAGCACAGCGATTCCC
Seq A exon
GGTCTCACACTTACCAGAGAATGATTGGCTGTGAGCTGCTGGAGGATGGAAGCACCACAGGATTTCTGCAGTATGCATATGACGGGCAGGATTTCCTGATCTTCAATAAAGACACCCTCTCCTGGCTGGCTGTAGATAATGTGGCTCACACCATCAAGCAGGCATGGGAGGCCAATCAGCATGAGTTGCTGTATCAAAAGAATTGGCTGGAAGAAGAATGTATTGCCTGGCTAAAGAGATTCCTGGAGTATGGGAAAGACACCCTACAAAGAACAG
Seq C2 exon
AATCAGAAACTATCCCTCTTGTGATGAAAGCTGTCTCTGGGTCCATTGTCCTTGTCATTGTGCTGGCTGGAGTTGGTGTTCTAGTCTGGAGAAGAAGGCCCCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153029_MULTIEX1-3/5=C1-5
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.006 A=0.001 C2=0.000
Domain overlap (PFAM):

C1:
PF0012913=MHC_I=PU(0.1=0.0)
A:
PF0012913=MHC_I=PD(9.3=18.8),PF064417=EHN=FE(27.0=100)
C2:
PF064417=EHN=PD(9.2=44.4)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACTATGGGGGAACTGATGGC
R:
GGGGCCTTCTTCTCCAGACTA
Band lengths:
173-449
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development