Special

HsaEX6008191 @ hg38

Exon Skipping

Gene
ENSG00000179869 | ABCA13
Description
ATP binding cassette subfamily A member 13 [Source:HGNC Symbol;Acc:HGNC:14638]
Coordinates
chr7:48528236-48587288:+
Coord C1 exon
chr7:48528236-48528345
Coord A exon
chr7:48580224-48580374
Coord C2 exon
chr7:48587154-48587288
Length
151 bp
Sequences
Splice sites
3' ss Seq
TGTGCTGCTTCTCTCTGCAGAGA
3' ss Score
11.83
5' ss Seq
GAGGTAAAT
5' ss Score
8.39
Exon sequences
Seq C1 exon
TGCTTTGGACTTCTAGGGGTGAATGGAGCTGGGAAGAGCACGACTTTCAAAATGCTGAATGGTGAAGTTTCTCTAACTTCAGGACATGCTATCATCAGGACTCCCATGGG
Seq A exon
AGACGCCGTGGACCTGTCTTCTGCTGGCACGGCAGGCGTGCTCATTGGCTACTGTCCCCAGCAGGATGCCCTGGACGAGCTTCTGACTGGTTGGGAACATCTCTATTATTACTGTAGCTTACGCGGGATTCCAAGGCAGTGCATCCCTGAG
Seq C2 exon
GTTGCTGGAGACCTCATCAGGCGCTTACACCTCGAAGCCCACGCGGACAAACCTGTGGCCACCTACAGTGGGGGAACCAAGCGGAAACTCTCTACAGCCCTGGCCCTGGTGGGGAAACCTGACATTCTTTTATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000179869-'96-108,'96-107,102-108
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.004 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0000522=ABC_tran=FE(24.2=100)
A:
PF0000522=ABC_tran=PD(23.0=66.7)
C2:
PF0000522=ABC_tran=FE(29.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTTTGGACTTCTAGGGGTGA
R:
TAAAAGAATGTCAGGTTTCCCCACC
Band lengths:
242-393
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains