HsaEX1001292 @ hg38
Exon Skipping
Gene
ENSG00000179869 | ABCA13
Description
ATP binding cassette subfamily A member 13 [Source:HGNC Symbol;Acc:HGNC:14638]
Coordinates
chr7:48489236-48506390:+
Coord C1 exon
chr7:48489236-48489344
Coord A exon
chr7:48495599-48495650
Coord C2 exon
chr7:48506336-48506390
Length
52 bp
Sequences
Splice sites
3' ss Seq
ATCTTCACTGATCATTGAAGATT
3' ss Score
3.68
5' ss Seq
GAGGCGAGT
5' ss Score
2.28
Exon sequences
Seq C1 exon
GTGTGGTATAATCAGAAGGGTTTTCATTCCCTACCTTCCTACTTAAATCATCTAAACAACCTTATTTTGTGGCAGCACCTACCCCCTACTGTGGACTGGAGACAATACG
Seq A exon
ATTACTGAACCTTCACTGAAGATCATCACTGACACATTTCGTTTGCTGAGAG
Seq C2 exon
GAATAACACTCTACAGCCACCCATATGGAGGGGCCTTGCTGAACGAGGACAAGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000179869_MULTIEX2-2/5=1-3
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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(11.8=100)
A:
NO
C2:
PF126982=ABC2_membrane_3=FE(5.9=100)
Main Inclusion Isoform:
ENST00000435803fB8350
Other Inclusion Isoforms:
NA
Associated events
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:
GGGTTTTCATTCCCTACCTTCCT
R:
TTCAGCAAGGCCCCTCCATAT
Band lengths:
135-187
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains