HsaEX6024447 @ hg19
Exon Skipping
Gene
ENSG00000154262 | ABCA6
Description
ATP-binding cassette, sub-family A (ABC1), member 6 [Source:HGNC Symbol;Acc:36]
Coordinates
chr17:67102169-67107081:-
Coord C1 exon
chr17:67106942-67107081
Coord A exon
chr17:67103837-67103953
Coord C2 exon
chr17:67102169-67102352
Length
117 bp
Sequences
Splice sites
3' ss Seq
TTCATATTTTTTTGCCTTAGATC
3' ss Score
9.85
5' ss Seq
AAGGTAAAG
5' ss Score
9.06
Exon sequences
Seq C1 exon
TTTACATAGGAATGAAATATGTAACCCAGAACAAATAACATCCTTCATTACTCATCACATCCCCGATGCTAAATTAAAAACAGAAAACAAAGAAAAGCTTGTATATACTTTGCCACTGGAAAGGACAAATACATTTCCAG
Seq A exon
ATCTTTTCAGTGATCTGGATAAGTGTTCTGACCAGGGAGTGACAGGTTATGACATTTCCATGTCAACTCTAAATGAAGTCTTTATGAAACTGGAAGGACAGTCAACTATCGAACAAG
Seq C2 exon
ATTTCGAACAAGTGGAGATGATAAGAGACTCAGAAAGCCTCAATGAAATGGAGCTGGCTCACTCTTCCTTCTCTGAAATGCAGACAGCTGTGAGTGACATGGGCCTCTGGAGAATGCAAGTCTTTGCCATGGCACGGCTCCGTTTCTTAAAGTTAAAACGTCAAACTAAAGTGTTATTGACCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262-'18-20,'18-18,20-20=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=0.005
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF126982=ABC2_membrane_3=PU(1.4=8.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTCATCACATCCCCGATGCT
R:
TTAACTTTAAGAAACGGAGCCG
Band lengths:
247-364
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)