Special

HsaINT0000588 @ hg19

Intron Retention

Gene
Description
ATP-binding cassette, sub-family A (ABC1), member 2 [Source:HGNC Symbol;Acc:32]
Coordinates
chr9:139911026-139911576:-
Coord C1 exon
chr9:139911372-139911576
Coord A exon
chr9:139911191-139911371
Coord C2 exon
chr9:139911026-139911190
Length
181 bp
Sequences
Splice sites
5' ss Seq
CAGGTACTG
5' ss Score
9.04
3' ss Seq
CTCCCCTCCCCGACCCCCAGGCA
3' ss Score
8.85
Exon sequences
Seq C1 exon
TCCCTCATGTCCACGACGGCCTTTGGTCTGGGCTCTAAGTACTTCGCGCTGTATGAGGTGGCCGGCGTGGGCATCCAGTGGCACACCTTCAGCCAGTCCCCGGTGGAGGGGGACGACTTCAACTTGCTCCTGGCTGTCACCATGCTGATGGTGGACGCCGTGGTCTATGGCATCCTCACGTGGTACATTGAGGCTGTGCACCCAG
Seq A exon
GTACTGGCCAGCCCTTGGAGGGCAGGGGAGAGGCAGGGGTCCCCAGCCAGGGTTGGGGACCAGCAGTCTGTGTCCACTCCTGGATGCAGCACGGGTGGCTCCCTGGGTGGGCACGTGGCCCACGTGGTGGATGGTCACCCCAGGCCCTAGGTCAGCCTCCCCTCCCCTCCCCGACCCCCAG
Seq C2 exon
GCATGTACGGGCTGCCCCGGCCCTGGTACTTCCCACTGCAGAAGTCCTACTGGCTGGGCAGTGGGCGGACAGAAGCCTGGGAGTGGAGCTGGCCGTGGGCACGCACCCCCCGCCTCAGTGTCATGGAGGAGGACCAGGCCTGTGCCATGGAGAGCCGGCGCTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107331-ABCA2:NM_001606:18
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.072
Domain overlap (PFAM):

C1:
PF126982=ABC2_membrane_3=PD(26.2=88.4)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTTTGGTCTGGGCTCTAAG
R:
AGCCAGTAGGACTTCTGCAGT
Band lengths:
242-423
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