HsaEX6024450 @ hg38
Exon Skipping
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69100797-69105628:-
Coord C1 exon
chr17:69105462-69105628
Coord A exon
chr17:69102835-69102968
Coord C2 exon
chr17:69100797-69100934
Length
134 bp
Sequences
Splice sites
3' ss Seq
TCTTATTAACTTCATATTAGAAT
3' ss Score
4.96
5' ss Seq
AAGGTATGT
5' ss Score
9.79
Exon sequences
Seq C1 exon
ATTATTGGTATTTGGAATCGCAATATTCCCTTTGATTGTTGAAAATATAATGTATGCTATGTTAAATGAAAAGATCGATTGGGAATTTAAAAACGAATTGTATTTTCTCTCTCCTGGACAACTTCCCCAGGAACCCCGTACCAGCCTGTTGATCATCAATAACACAG
Seq A exon
AATCAAATATTGAAGATTTTATAAAATCACTGAAGCATCAAAATATACTTTTGGAAGTAGATGACTTTGAAAACAGAAATGGTACTGATGGCCTCTCATACAATGGAGCTATCATAGTTTCTGGTAAACAAAAG
Seq C2 exon
GATTATAGATTTTCAGTTGTGTGTAATACCAAGAGATTGCACTGTTTTCCAATTCTTATGAATATTATCAGCAATGGGCTACTTCAAATGTTTAATCACACACAACATATTCGAATTGAGTCAAGCCCATTTCCTCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262-'43-42,'43-41,45-42=AN
Average complexity
A_S
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(15.5=100)
A:
PF126982=ABC2_membrane_3=FE(12.2=100)
C2:
PF126982=ABC2_membrane_3=FE(12.5=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:
GGAATCGCAATATTCCCTTTGATTGT
R:
ACATTTGAAGTAGCCCATTGC
Band lengths:
245-379
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains