HsaEX0000290 @ hg19
Exon Skipping
Gene
ENSG00000154262 | ABCA6
Description
ATP-binding cassette, sub-family A (ABC1), member 6 [Source:HGNC Symbol;Acc:36]
Coordinates
chr17:67129782-67132391:-
Coord C1 exon
chr17:67132233-67132391
Coord A exon
chr17:67130780-67130883
Coord C2 exon
chr17:67129782-67130008
Length
104 bp
Sequences
Splice sites
3' ss Seq
GCTTTTCTTTGTGCTTACAGCTC
3' ss Score
9.48
5' ss Seq
GAAGTAAGT
5' ss Score
9.82
Exon sequences
Seq C1 exon
GAACAAGTGTCATTGGGGCACCAAATAAAACACACATGGACGAAATACTTCTGGAAAATTTACCATATGCTATGGGAATCATCTTTAATGAAACTTTCTCTTATAAGTTAATATTTTTCCAGGGATATAACAGTCCACTTTGGAAAGAAGATTTCTCAG
Seq A exon
CTCATTGCTGGGATGGATATGGTGAGTTTTCATGTACATTGACCAAATACTGGAATAGAGGATTTGTGGCTTTACAAACAGCTATTAATACTGCCATTATAGAA
Seq C2 exon
ATCACAACCAATCACCCTGTGATGGAGGAGTTGATGTCAGTTACTGCTATAACTATGAAGACATTACCTTTCATAACTAAAAATCTTCTTCACAATGAGATGTTTATTTTATTCTTCTTGCTTCATTTCTCCCCACTTGTATATTTTATATCACTCAATGTAACAAAAGAGAGAAAAAAGTCTAAGAATTTGATGAAAATGATGGGTCTCCAAGATTCAGCATTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262_MULTIEX1-1/3=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.005 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(13.6=100)
A:
PF126982=ABC2_membrane_3=FE(8.7=100)
C2:
PF126982=ABC2_membrane_3=FE(19.3=100)
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:
TCCACTTTGGAAAGAAGATTTCTCA
R:
GCTGAATCTTGGAGACCCATCA
Band lengths:
247-351
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
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)