HsaEX6032211 @ hg38
Exon Skipping
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94021240-94021951:-
Coord C1 exon
chr1:94021846-94021951
Coord A exon
chr1:94021640-94021714
Coord C2 exon
chr1:94021240-94021409
Length
75 bp
Sequences
Splice sites
3' ss Seq
TTTGTTTACATGGTTTTTAGGGC
3' ss Score
8.06
5' ss Seq
AAGGTACTT
5' ss Score
8.4
Exon sequences
Seq C1 exon
GTATGGAGGAATTTCCATTGGAGGAAAGCTCCCAGTCGTCCCCATCACGGGGGAAGCACTTGTTGGGTTTTTAAGCGACCTTGGCCGGATCATGAATGTGAGCGGG
Seq A exon
GGCCCTATCACTAGAGAGGCCTCTAAAGAAATACCTGATTTCCTTAAACATCTAGAAACTGAAGACAACATTAAG
Seq C2 exon
GTGTGGTTTAATAACAAAGGCTGGCATGCCCTGGTCAGCTTTCTCAATGTGGCCCACAACGCCATCTTACGGGCCAGCCTGCCTAAGGACAGGAGCCCCGAGGAGTATGGAATCACCGTCATTAGCCAACCCCTGAACCTGACCAAGGAGCAGCTCTCAGAGATTACAGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691-'63-77,'63-76,64-77=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:
NO
A:
PF126982=ABC2_membrane_3=PU(6.4=76.0)
C2:
PF126982=ABC2_membrane_3=FE(18.7=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:
CCTTGGCCGGATCATGAATGT
R:
TCAGGTTCAGGGGTTGGCTAA
Band lengths:
170-245
Functional annotations
There are 1 annotated functions for this event
PMID: 11320094
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: not specified. ELM ID: ELMI000567; ELM sequence: MNVSGG; Overlap: PARTIAL_LEFT
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains