HsaEX6008196 @ hg38
Exon Skipping
Gene
ENSG00000179869 | ABCA13
Description
ATP binding cassette subfamily A member 13 [Source:HGNC Symbol;Acc:HGNC:14638]
Coordinates
chr7:48507872-48516881:+
Coord C1 exon
chr7:48507872-48508049
Coord A exon
chr7:48511084-48511199
Coord C2 exon
chr7:48516725-48516881
Length
116 bp
Sequences
Splice sites
3' ss Seq
ATTTCTTTTTATCTTCTCAGCTC
3' ss Score
8.87
5' ss Seq
CGGGTATGT
5' ss Score
8.79
Exon sequences
Seq C1 exon
CCTGGAGAGCATCCGTCAGTGTGGAGTGGCCCTCTGCATCGTGCTGGGATTCTCCATCCTGTCTGCATCCATCGGCAGCTCTGTGGTGAGGGACAGGGTGATTGGAGCCAAAAGGTTGCAGCACATAAGTGGCCTTGGCTACAGGATGTACTGGTTCACAAACTTCCTATATGACATG
Seq A exon
CTCTTTTACTTGGTTTCCGTCTGCCTGTGTGTTGCCGTTATTGTCGCCTTCCAGTTAACAGCTTTTACTTTCCGCAAGAACTTGGCAGCCACGGCCCTCCTGCTGTCACTTTTCGG
Seq C2 exon
ATATGCAACTCTTCCATGGATGTACCTGATGTCCAGAATCTTTTCCAGTTCGGACGTGGCTTTCATTTCCTATGTCTCACTAAACTTCATCTTTGGCCTTTGTACCATGCTCATAACCATTATGCCCCGGTTGCTAGCCATCATCTCCAAAGCTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000179869-'88-99,'88-98,89-99
Average complexity
C2
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=PU(13.0=65.5)
A:
PF126982=ABC2_membrane_3=FE(12.5=100)
C2:
PF126982=ABC2_membrane_3=FE(17.0=100)
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:
CATCCTGTCTGCATCCATCGG
R:
GCAACCGGGGCATAATGGTTA
Band lengths:
258-374
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains