Special

HsaEX1001289 @ hg38

Exon Skipping

Gene
ENSG00000179869 | ABCA13
Description
ATP binding cassette subfamily A member 13 [Source:HGNC Symbol;Acc:HGNC:14638]
Coordinates
chr7:48506336-48508049:+
Coord C1 exon
chr7:48506336-48506390
Coord A exon
chr7:48506792-48506829
Coord C2 exon
chr7:48507872-48508049
Length
38 bp
Sequences
Splice sites
3' ss Seq
AGATTTTCCTCCTGATCCAGATG
3' ss Score
6.63
5' ss Seq
CAGGTACAG
5' ss Score
8.68
Exon sequences
Seq C1 exon
GAATAACACTCTACAGCCACCCATATGGAGGGGCCTTGCTGAACGAGGACAAGAT
Seq A exon
ATGGAGACATGGGTGGGGATAAGGCCAGAGCTCTTCAG
Seq C2 exon
CCTGGAGAGCATCCGTCAGTGTGGAGTGGCCCTCTGCATCGTGCTGGGATTCTCCATCCTGTCTGCATCCATCGGCAGCTCTGTGGTGAGGGACAGGGTGATTGGAGCCAAAAGGTTGCAGCACATAAGTGGCCTTGGCTACAGGATGTACTGGTTCACAAACTTCCTATATGACATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000179869-'85-97,'85-96,86-97
Average complexity
C2
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(5.9=100)
A:
NO
C2:
PF126982=ABC2_membrane_3=PU(13.0=65.5)


Main Inclusion Isoform:
ENST00000435803fB8347


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm9)
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:
TACAGCCACCCATATGGAGGG
R:
CGATGGATGCAGACAGGATGG
Band lengths:
118-156
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains