HsaINT0000755 @ hg38
Intron Retention
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69137296-69140748:-
Coord C1 exon
chr17:69140608-69140748
Coord A exon
chr17:69137501-69140607
Coord C2 exon
chr17:69137296-69137500
Length
3107 bp
Sequences
Splice sites
5' ss Seq
TTGGTATGT
5' ss Score
7.12
3' ss Seq
TCTTTTTATATGCATTACAGGAA
3' ss Score
8.24
Exon sequences
Seq C1 exon
GTTGTGTTCCACCATGATTACTTTCTCCTTCAGCGAATAGGCTAAATGAATATGAAACAGAAAAGCGTGTATCAGCAAACCAAAGCACTTCTGTGCAAGAATTTTCTTAAGAAATGGAGGATGAAAAGAGAGAGCTTATTG
Seq A exon
GTATGTTTAAAAATTTGTCTCTTTCCACGGTTAGCACTCTTACAGTGTTTCATTACCTACTGATTCTCTTATGTTCTCTTTTAATTAGTAGATGGGATTTATTGATTTTACCAGTTCTCTCTAGTTGTATTTGTTGAATTGAGAGACTGAAGAATAACATAAAATTATTAAAGACTAAAAGAATTCCTCATATAAAAAGAGATTAAGTGAACATTTAATTATATGGTAAATTACAGCAACTGCTAGAGCTACTACCAAATGTTATACACTTAGAGCCAAGAAGTACAAAAAAAATGTTGTCAGAAGAAATGGAGACATTTTAATTTTGTGGATTTATTTTCAAGGACATGAATTTTCTACACAAAAATTGTTTTTAAGAATTATGATCAACTAACACCACTGAAAGTCAGTTTGCATCAAGCAGGTGGGCTAATCACAGATGACTAGCCCAAATCTCAGTGGCTTAACACAGCAAATGTTTATTTTTTTATTTTTTATTTTTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATACATATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCGCCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCATCCCACAACAGGCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTGCCATCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGCAATAGTTTACTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGTCACATTTTCTTAATCCAGTCTATCATTGTCGGACATTTGGGTTGGTTCCAAGTGTTTGCTATTGTGAATAGTGCCGCAGTAAACATACATGTGCATGTGTCTTTATAGCAGCATGATTTGTAGTCCTTTGGGTATATACCCAGTAATGAGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCACCACACTGACTTCCACAATGGTTGAACTAGTTTACATTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCGCCTGTTGTTTCTTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTCTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTTTTCATATCCTTTGCCCACTTTTTGATGGGGCTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTGGCCCTTTGTCAGATGAGTAGGTTGGGAAAATTTTCTCCCGTTTTGTAGGTTGCCTGTTCACCCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCTCATTTGTCAATTTTAGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCCTGCTTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTAACGTTTAAGTCTTTAATCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACACATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCGTTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTGGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCGATGCGGGCTCTTTTTTGGTTCCGTATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTATAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTGAGCCAAATCATGAGTGAATTCCCATTCACAATTGCTTCAAAGAGAATAAAATACTTAGGAATCCAACTTACAAGGGACGTGAAGGACCTCTTCAAGGAGAACTACAAAGCACTGCTCAATGAAATAAAAGAGGATACAAGCAAATGCTTATTTTTAACTCCTCATGGTCTAATGAAAGTTGAGAGTGGAAGTAAAGTAGGTTGGGTGGGTGAAGAAATCTTCTCCACACAATCATTCAGGCACCTAGGCTTCATCCAGGACCTCTGCCACCATCTTGGACCTTGAAGACCTCTAGAGGATCCTATGCATTCAGTCAAAAGATCAGGAAATAGTGGGACCAGGACAGTGAGAATATAGAAAGTTGTATATGTCCATGAACGAGGCCTGGAAGTAGTGCATATCACTTCTGCCCATATCCTGTGGTCCAGGAAATCATTCGGTTCCACTTAATTTCAGTAGGCTGAGAATGCAGTCAAGCATGGTGCCAAAGAGGTAATGATGATTGACATTGGTGAACAGCAATAGTAGTAGCCTCCACCAGCCAGTTCCTTTTCATTTTCTTTAGTTTACAATACAAGGATATGACAACTGGCAAAAATATTGCTATTTGCCACCATAAACTCTATCTAGGATACTCCATGTCTTATAAATTCTATAGTCAGCTGCCCATGCATATAGAGATTGTCATCCTGTTATTCACTCCATTAGTTTCTATGACGGCTTCTGCAGGAGTTCATGATTTAATGCAAAAGTTTTGTTCTAGTATTAGAGAATGATAAATGTGGCTACTGTCTCAGTATTTATCTTTCATTTGATTCTCCATGCTCTGAGGCTTGGAGAGCAGAGAGAACATAACTGTATAGCACAATTGGAATTTGTTTTCAACAGTATTTTGTATTAACTGAGATCTTTAAGTGAATGCAACCTTAATTCATTATTTTTCTTTTTATATGCATTACAG
Seq C2 exon
GAATGGGGCCTCTCAATACTTCTAGGACTGTGTATTGCTCTGTTTTCCAGTTCCATGAGAAATGTCCAGTTTCCTGGAATGGCTCCTCAGAATCTGGGAAGGGTAGATAAATTTAATAGCTCTTCTTTAATGGTTGTGTATACACCAATATCTAATTTAACCCAGCAGATAATGAATAAAACAGCACTTGCTCCTCTTTTGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262:ENST00000284425:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PU(1.0=12.5)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(17.5=100)
Main Inclusion Isoform:
NA
Other Inclusion 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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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