HsaEX0000248 @ hg38
Exon Skipping
Gene
ENSG00000154263 | ABCA10
Description
ATP binding cassette subfamily A member 10 [Source:HGNC Symbol;Acc:HGNC:30]
Coordinates
chr17:69194385-69197122:-
Coord C1 exon
chr17:69197064-69197122
Coord A exon
chr17:69196206-69196483
Coord C2 exon
chr17:69194385-69194495
Length
278 bp
Sequences
Splice sites
3' ss Seq
CCGGCTACCATCCCGTCTAGGAA
3' ss Score
6.37
5' ss Seq
GAGGTGGGG
5' ss Score
4.41
Exon sequences
Seq C1 exon
AATCAGAAATGTTATAAAAGAATATAATGGAAAGACTGGAAAAGTAGAAGCATTGCAAG
Seq A exon
GAAGTGAGGAGCGTCTCTGCCCCGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCATCATCTGGGATGTGAGGAGCGCCCCTGCCCGGCCGCGACCCCGTCTGGGAACTGAGGAGTGTCTCTGCCCGACCGCCACCCTGTCTGGGAGATGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGCCCCTCTGCCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCATCTCCGCCCGGCAGCCGCCCCCTCCAGGAG
Seq C2 exon
GCATATTTTTTGACATATATGAAGGACAGATCACTGCAATACTTGGGCATAATGGAGCTGGTAAATCAACACTGCTAAACATTCTTAGTGGATTGTCTGTTTCTACAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154263_MULTIEX4-3/10=2-4
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.268 C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=PU(1.4=9.5)
A:
NO
C2:
PF0000522=ABC_tran=FE(25.2=100)
Main Inclusion Isoform:
ENST00000269081fB22
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
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:
ATGGAAAGACTGGAAAAGTAGAAGCA
R:
TGTAGAAACAGACAATCCACTAAGA
Band lengths:
140-418
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development