HsaEX6024453 @ hg38
Exon Skipping
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69091143-69096801:-
Coord C1 exon
chr17:69096628-69096801
Coord A exon
chr17:69096240-69096353
Coord C2 exon
chr17:69091143-69091262
Length
114 bp
Sequences
Splice sites
3' ss Seq
ATTATTTCTTTTATGCTCAGGTT
3' ss Score
6.98
5' ss Seq
TTTGTAAGT
5' ss Score
7.4
Exon sequences
Seq C1 exon
AAAAATGCTAAGTCCCAGCTATGGATTTCAGGCCTCTACACTTCTGCTTACTGGTGTGGGCAGGCACTAGTGGACGTCAGCTTCTTCATTTTAATTCTCCTTTTAATGTATTTAATTTTCTACATAGAAAACATGCAGTACCTTCTTATTACAAGCCAAATTGTGTTTGCTTTG
Seq A exon
GTTATAGTTACTCCTGGTTATGCAGCTTCTCTTGTCTTCTTCATATATATGATATCATTTATTTTTCGCAAAAGGAGAAAAAACAGTGGCCTTTGGTCATTTTACTTCTTTTTT
Seq C2 exon
GCCTCCACCATCATGTTTTCCATCACTTTAATCAATCATTTTGACCTAAGTATATTGATTACCACCATGGTATTGGTTCCTTCATATACCTTGCTTGGATTTAAAACTTTTTTGGAAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262-'50-49,'50-46,51-49=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
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(15.8=100)
A:
PF126982=ABC2_membrane_3=FE(10.2=100)
C2:
PF126982=ABC2_membrane_3=FE(10.8=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
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:
TCAGGCCTCTACACTTCTGCT
R:
CCAAGCAAGGTATATGAAGGAACCA
Band lengths:
245-359
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains