Special

HsaEX6062299 @ hg38

Exon Skipping

Gene
Description
ATP binding cassette subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:29]
Coordinates
chr9:104791936-104793300:-
Coord C1 exon
chr9:104793171-104793300
Coord A exon
chr9:104792786-104792906
Coord C2 exon
chr9:104791936-104791998
Length
121 bp
Sequences
Splice sites
3' ss Seq
TTCTTGTTTTTTCCCCCAAGACC
3' ss Score
6.98
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
Exon sequences
Seq C1 exon
GGGAGAATCGCTTTGTGTCACCATTATCTTGGGACTTGGTGGGACGAAACCTCTTCGCCATGGCCGTGGAAGGGGTGGTGTTCTTCCTCATTACTGTTCTGATCCAGTACAGATTCTTCATCAGGCCCAG
Seq A exon
ACCTGTAAATGCAAAGCTATCTCCTCTGAATGATGAAGATGAAGATGTGAGGCGGGAAAGACAGAGAATTCTTGATGGTGGAGGCCAGAATGACATCTTAGAAATCAAGGAGTTGACGAAG
Seq C2 exon
ATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165029-'87-91,'87-90,90-91=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=0.195 C2=0.000
Domain overlap (PFAM):

C1:
PF126982=ABC2_membrane_3=PD(6.3=75.0)
A:
NO
C2:
PF0000522=ABC_tran=PU(7.6=52.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGAATCGCTTTGTGTCACCA
R:
CTCACCAGGAGGAATGCCCA
Band lengths:
192-313
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains