HsaEX6008212 @ hg38
Exon Skipping
Gene
ENSG00000179869 | ABCA13
Description
ATP binding cassette subfamily A member 13 [Source:HGNC Symbol;Acc:HGNC:14638]
Coordinates
chr7:48367794-48376572:+
Coord C1 exon
chr7:48367794-48367908
Coord A exon
chr7:48374347-48374416
Coord C2 exon
chr7:48376441-48376572
Length
70 bp
Sequences
Splice sites
3' ss Seq
CTCCATCAATCTGTGGGCAGTGC
3' ss Score
5.14
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
ATTCCTGAACAACGTTGGTTTCTTTTTTCCACTGATAATGATGCTGACGTGGATGGTGTCTGTGGCCAGCATGGTCAGAAAGTTGGTGTATGAGCAGGAGATACAGATAGAAGAG
Seq A exon
TGCCTTCTTTCGACAACCGCCTTTGGACAAGGGGTATTTTTTATTACATTCCTGGAAGGACAAGAGACAG
Seq C2 exon
GGATTCAATGGAATAATATGTACCAGGCTCTGGAACAAGGGGGCATGACATTTGGCTGGGTTTGCTGGATGATTCTTTTTGATTCAAGCCTTTATTTTTTGTGTGGATGGTACTTGAGCAACTTGATTCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000179869_MULTIEX1-2/2=C1-C2
Average complexity
C3*
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(8.1=100)
A:
PF126982=ABC2_membrane_3=FE(4.9=100)
C2:
PF126982=ABC2_membrane_3=PD(7.9=82.2)
Main Skipping Isoform:
NA
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:
GGCCAGCATGGTCAGAAAGTT
R:
TGCTCAAGTACCATCCACACA
Band lengths:
172-242
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains