HsaINT0000762 @ hg38
Intron Retention
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69089465-69091262:-
Coord C1 exon
chr17:69091143-69091262
Coord A exon
chr17:69089543-69091142
Coord C2 exon
chr17:69089465-69089542
Length
1600 bp
Sequences
Splice sites
5' ss Seq
GTGGTAAGA
5' ss Score
8.24
3' ss Seq
GTTTTGTTTTGTCTTTTCAGAGA
3' ss Score
10.49
Exon sequences
Seq C1 exon
GCCTCCACCATCATGTTTTCCATCACTTTAATCAATCATTTTGACCTAAGTATATTGATTACCACCATGGTATTGGTTCCTTCATATACCTTGCTTGGATTTAAAACTTTTTTGGAAGTG
Seq A exon
GTAAGAAATGTTACCAACTGTGTCATTAATTTTGAATATGTAGCTTATTAAAGTGCTTTTCCCAGATCAAGAGAGACAGAAAGTAGTGGAACTGGGGAGTAACAGCAAATGGGCATAAGAGATTTTGGGGGGATGATGAAAATGTTCAAAAGGGGAATCGTGGTGATGCTTGCACAACTCTGTAAGCTTACTAAACATCCTTGAGTTCTACTCTTAAAATGAGTGAATTTTATCAGATGCAAAATTAAATCTCAATAAAACATTTAAACTTTTGTCCTATTCACTTTGCAAAATATAGGCATTGTCAAATGCCATTCAAATATGGGTAATGCCAGATTGGGGGAAAAATGTGCTTGGTTTGACAGGTAATTTGTTAGCCGCTGAGGATAAACTCATATGCGATTCCATTCAATCATTCAAAAATATATATCAAATACTATTCTCTGTTAGTCACTGTGCTAGTAACTGGGGACACCTGATGAGCAAGATAGCACAGTCCTGACTTTCCCAAAGCTTAGTGGAGGCAAAGGCAGACCAAACTTACTCAAGTTAATACAAGAAACTTAAATGTTACAAAGGACAAGGGCAAAGGGCCAAGGGAGGACACACAAGGCACAGCTGGTGTGTTCTAGCGAGTCAGACAATTCTTCTGGGGACGTTATATTTAAATACATGGCTAAAGGATGAATAATAATTAGTTAATGGGACAGGAGGTAAGCATGTTCTGCAGAGGAAAGCAAAGGCCTTGAAGCAGGAAAAGCCAGGAGGCATTAAAGAAACTGAATGTGGTTCAAGTGGAGAAAAGTATACGATGAGGCCAGGGCAAGAAAGTTAAGTGGAGAACACACTTTTTGGAGCTCTGTACCACTCTGGATGAAATGGCTTTAAGGAAAGTAAAGAGGGCTTCTGTAATCAGGGGTGTCCTTGGCGAACTGGAAAAGCCTTCCATTTGCAAAAATACATCTCCATTGGCTGAGCAATGCCTGAAGTTCTCGATTAGAAACTAATCCCTTTGCTTAAAGCATTTTCCTCCTAAGTAGACCTGCAAGGTGAAATACATTCATCTTGATCTGTCATGTATTATATAGGAGGAATGAGTAACTTTCTGAATGAACTGATTGATGAAGAAAGAATAACGTGCTGGAACTAATTATCATTATGGGAAAATAGTCACCATTGGGATAAGAAGGGGCTCTGAAAAGGCTTGTCTGTGGCACTTAAGAAAAATATTGTCAACCCCCAGAAATTTTACCAGTGCCAGCACCTCTCTCTGCTATGCTTTCAGTAATAGCATATTACTGTTTCAGTAATAACATATGCTTCAGTAATAACATATGCTTTCTGCAAATGTTAAAACCAAATTTTTTTAAACAAAGAATTGAAGAGAGGAACAGACATAGGTTACTTGCTTATTGAGAGACAGTAAGAGTTGAGTAGGAGGTTCTCTTTTCTGTGGGGAATTACTTTGTCACTAGTGCACACAAAGAAATTGAGATCTATGAGGAAAATATTCAATATGTGAATTTTATATTATTTAAGTGCAAATCATAAAGCAGATGAATTATCATTAGTGTGTGTGTGTTTTGTTTTGTCTTTTCAG
Seq C2 exon
AGAGACCAGGAGCACTACAGAGAATTTCCAGAGGCAAATTTTGAATTGAGTGCCACTGATTTTCTAGTCTGCTTCATA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262:ENST00000284425:26
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=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(10.8=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(6.9=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTCCACCATCATGTTTTCCA
R:
TATGAAGCAGACTAGAAAATCAGTGG
Band lengths:
198-1798
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