Special

HsaEX0000251 @ hg19

Exon Skipping

Gene
Description
ATP-binding cassette, sub-family A (ABC1), member 2 [Source:HGNC Symbol;Acc:32]
Coordinates
chr9:139910127-139910923:-
Coord C1 exon
chr9:139910743-139910923
Coord A exon
chr9:139910414-139910626
Coord C2 exon
chr9:139910127-139910323
Length
213 bp
Sequences
Splice sites
3' ss Seq
GACCCCGCCCACCTACCCAGGTC
3' ss Score
6.11
5' ss Seq
CAAGTGGGT
5' ss Score
4.82
Exon sequences
Seq C1 exon
AGGAGACCCGTGGCATGGAGGAGGAGCCCACCCACCTGCCTCTGGTTGTCTGCGTGGACAAACTCACCAAGGTCTACAAGGACGACAAGAAGCTGGCCCTGAACAAGCTGAGCCTGAACCTCTACGAGAACCAGGTGGTCTCCTTCTTGGGCCACAACGGGGCGGGCAAGACCACCACCAT
Seq A exon
GTCCATCCTGACCGGCCTGTTCCCTCCAACGTCGGGTTCCGCCACCATCTACGGGCACGACATCCGCACGGAGATGGATGAGATCCGCAAGAACCTGGGCATGTGCCCGCAGCACAATGTGCTCTTTGACCGGCTCACGGTGGAGGAACACCTCTGGTTCTACTCACGGCTCAAGAGCATGGCTCAGGAGGAGATCCGCAGAGAGATGGACAA
Seq C2 exon
GATGATCGAGGACCTGGAGCTCTCCAACAAACGGCACTCACTGGTGCAGACATTGTCGGGTGGCATGAAGCGCAAGCTGTCCGTGGCCATCGCCTTCGTGGGCGGCTCTCGCGCCATCATCCTGGACGAGCCCACGGCGGGCGTGGACCCCTACGCGCGCCGCGCCATCTGGGACCTCATCCTGAAGTACAAGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107331-'31-36,'31-35,32-36
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.082 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0000522=ABC_tran=PU(18.6=44.3)
A:
PF0000522=ABC_tran=FE(49.0=100)
C2:
PF0000522=ABC_tran=PD(31.7=68.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAGAAGCTGGCCCTGAACAA
R:
TGGCTTGTACTTCAGGATGAGG
Band lengths:
292-505
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development