HsaEX6008197 @ hg38
Exon Skipping
Gene
ENSG00000179869 | ABCA13
Description
ATP binding cassette subfamily A member 13 [Source:HGNC Symbol;Acc:HGNC:14638]
Coordinates
chr7:48506336-48511199:+
Coord C1 exon
chr7:48506336-48506390
Coord A exon
chr7:48507872-48508049
Coord C2 exon
chr7:48511084-48511199
Length
178 bp
Sequences
Splice sites
3' ss Seq
CTGCTCTGTTCCACCCGCAGCCT
3' ss Score
10.39
5' ss Seq
ATGGTAGGA
5' ss Score
6.66
Exon sequences
Seq C1 exon
GAATAACACTCTACAGCCACCCATATGGAGGGGCCTTGCTGAACGAGGACAAGAT
Seq A exon
CCTGGAGAGCATCCGTCAGTGTGGAGTGGCCCTCTGCATCGTGCTGGGATTCTCCATCCTGTCTGCATCCATCGGCAGCTCTGTGGTGAGGGACAGGGTGATTGGAGCCAAAAGGTTGCAGCACATAAGTGGCCTTGGCTACAGGATGTACTGGTTCACAAACTTCCTATATGACATG
Seq C2 exon
CTCTTTTACTTGGTTTCCGTCTGCCTGTGTGTTGCCGTTATTGTCGCCTTCCAGTTAACAGCTTTTACTTTCCGCAAGAACTTGGCAGCCACGGCCCTCCTGCTGTCACTTTTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000179869_MULTIEX2-5/5=3-C2
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
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(5.9=100)
A:
PF126982=ABC2_membrane_3=PU(13.0=65.5)
C2:
PF126982=ABC2_membrane_3=FE(12.5=100)
Main Skipping Isoform:
ENST00000435803fB8347
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AATAACACTCTACAGCCACCCA
R:
CCGAAAAGTGACAGCAGGAGG
Band lengths:
170-348
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains