HsaINT0000885 @ hg38
Intron Retention
Gene
ENSG00000154258 | ABCA9
Description
ATP binding cassette subfamily A member 9 [Source:HGNC Symbol;Acc:HGNC:39]
Coordinates
chr17:68990837-68992266:-
Coord C1 exon
chr17:68992175-68992266
Coord A exon
chr17:68990958-68992174
Coord C2 exon
chr17:68990837-68990957
Length
1217 bp
Sequences
Splice sites
5' ss Seq
CAGGTTGAG
5' ss Score
1.68
3' ss Seq
TCACACTGTTTTGATTTCAGAAT
3' ss Score
8.46
Exon sequences
Seq C1 exon
CCTTACCTTCATTTTCTCATTTTTCTTTTCATTCTGCGATGCCTAGAAATGAACTGCAGGAAGAAACTAATGAGAAAGGATCCTGTGTTCAG
Seq A exon
GTTGAGAAAATCAAATCGAATTTCATGTTTCATTTTGATATTCATTCTTTAAGGACTTTTTAATGTGCTGAATTAATTAAGTAAAAGACACTTCACAGGATGGTTTTTAAAGACTGTGATATACAAAATTCTTATAACCCATAATATAGGAATATATACTGAGCTTACAATCTAGAGAGAGAAACCATATTAGCACACACGAGACACTGGAAAATTAAGGCAGACCATAATTTTACTATAGAGGAAAGTTATGTGTAAGAGGTGGAATCTCTAAAATAATGGGTAAATATAGATAAGCATTGGGAAAGTTAATCCAATCCGGGAAGGAAGAATAGTTTGTGCAATAAAACCAAGGATGAGATGAAGGCACCAGGAGCTCCTTTGTAGGCTTATGTTGGGGGATGATGAAAAATGAAAGTGAGGCTAGATATTGGAGGATCTTGAAACAGAAAAGTATAGGAAAGGTTTTGCAAATTACATAATGTGAAACCAAGACACCAATGTGTCTTGAACACTTAGCCTTCCATATAAAATATAAACCAAGCTTAAGTCTAATGTTTGTGGTAGCAGAGAAGAGTGACAAGATGACAGCCATGTTTTAGGAAACCAACAGGCAACCAGAATGTCAGAGCGTGGCATGAGGGAGAGATAAAAGAATGAGCAGGAATCAATGGTGGGATGATGAAGGCAAGAACGAGTCTGTAGCAGAGAGGAAAGAGTGATTCTGTCACACATTCCCAAGAAGTGACTGTGCTCAGTAACTAATTAGGCATTGGTATGGTGATTAGATATCCTGGATTCTCTGGGACACATCCTTGATTCCAAATCTTTGGACTCATGGCTCTCACAAAGACCTCAGAATTCCAAAATATCTGTTGTCAAAACTATAGTTCCTAGATTCCTTTCCTCATGCAACTCTGCTTCACAATCCTTTGCCAGAGGGTGTATACCACTTTCTTCTTTGAAAGAAAACTGTCACCATCAACAGGGAGGATTAAGCTTTGGTAAAAAGCGAAGATGATATAAGGATATCATTACTCTACTCACTGAAGGAAACTAGGGTGTTTGAAAGGCGGATGGTGCAAGTAGAAGAATAGAGAGGATGTTGTGCTCTGAATGAATCTACTCCAAAAATTGGAAGTATAGAGAAAATTCATTAATTTTGATACAAGATTTTTAACCCGAAGTTTATCATTATCACACTGTTTTGATTTCAG
Seq C2 exon
AATTTCTCCAAGAAGCAACGCTATTTTTCCAAACCCAGAAGAGCCTGAAGGAGAGGAGGAAGATATCCAGATGGAAAGAATGAGAACAGTGAATGCTATGGCTGTGCGAGACTTTGATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154258:ENST00000340001:28
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.366
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(3.6=35.5)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTCATTTTTCTTTTCATTCTGCGA
R:
TCATCAAAGTCTCGCACAGCC
Band lengths:
198-1415
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development