HsaINT0000757 @ hg38
Intron Retention
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69100797-69102968:-
Coord C1 exon
chr17:69102835-69102968
Coord A exon
chr17:69100935-69102834
Coord C2 exon
chr17:69100797-69100934
Length
1900 bp
Sequences
Splice sites
5' ss Seq
AAGGTATGT
5' ss Score
9.79
3' ss Seq
TTATTTGTTTCTGTTTTAAGGAT
3' ss Score
10.98
Exon sequences
Seq C1 exon
AATCAAATATTGAAGATTTTATAAAATCACTGAAGCATCAAAATATACTTTTGGAAGTAGATGACTTTGAAAACAGAAATGGTACTGATGGCCTCTCATACAATGGAGCTATCATAGTTTCTGGTAAACAAAAG
Seq A exon
GTATGTTTGCCTTTTTGCTTTTATGAAAAAAACAAAAAGTACTACATTTTAGCTGTTTTAAAACTGCAGAAATTAAAGCTAGTATACAGAAACTTGACTCAGAAAAACATTCTGGGTTGTTATTTAATAAACTGTGAAGTTTACCTAAGTTTTTGTAAAACATTTTCTATCTTAGTTTTGTTTTGAATTAGATAACTTTTACATTTGAAAGGATCTAAATTTAATTGTACTGTTTAAACTCAATAAAAATATTATAGCTTATAATTATCAACCAATATAATTATGGATTTAAGGAATTTTATTCAGTAGCTAACTACCTGAATAAAGTTTGTTTTTATATATTGAGAAAATACATTAAATACTATAATATCTACACGAAATAACTGAGAAAAAAGTATTCTCAGTCTGCTACCTTAGCATATGTCGATTTGGGTAAAAGAGTCAAGCCATAGAGATTCATTAGAGAACAAGACTATTGAAAATACTTTTTTTGAGGCAGAGTCTTGCTGTGTTACCCAGGCTGGAGCTCAGTGGCAGTATCTTGGTTCACTACACCTCTGCCTCCCATGTTCCAGTGACTCCTGCCTCAGCCTCCAGAGTAGCTGGAATTACAAGCAGGCACCACCATGCCCAGCTAATTTTTGAATATTTGGTAGAGAGTGGGTTTCATCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTTGGGTGATCCTCCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATAAGCTACCGTGCTCGGTTTAAAAATACATCTTAATGTTAAGAACTCTTCAGTCTTATTTGCATTCTAATAAAAGCAAGGGGCCTAATTAAGTGAAGCTCCCTCTTTATTTCATGCTACAAAGTAAATTTTTAAAAAAGAAAAGCCTTTGAAGTTGTATTACTGAATTCCGTTCTACATAAACTAAATATGCTATAAAAAATGTAATCGCTTTGTGCCAGTTTTGGGAAATTACTTTGTCAGCTACTACGTTACATACCTCACATATTTACTACATGAACTAGTGGTAAGATTTAAACAATAAACCTTCTAATAGATTAATGAACATTTTCCTAAACATGAAGTACATAAATATAAAGATTGCTTTAGGAAGTGGGGAAATGCTTCTTTGGCAGGGTAAGGATGAATATTTAATGAACTCCATGCTTATCTCCTATCCAGAAGGCCAGCATTCCTTTGCTGCTGCTGCTGCTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCGCAGCTCACTACAACCTCTGCCTTCTGAGTTTAAGTGATTCTTCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGATGTGTGCCACCACACCTGGCTAATTTTTGTATTTTTTAGTAAACATAGGGTTTTGCTATGTTGGCCAGGCTAGTCTCAAACTCCTAACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTAGAATTACAGGTGTGAGCCACCATGCCCAATCTTCCTTTGCTTCTTCATCATAAACTGACAGCATCTCCTTGTCAGGGAGACTTTTAAACTCTACTAAATGAAATTTCCCCATCAGCAAAATGGAGACAAAATTATCTAAAATTAGTAATACAAATAAAAATTCATATTGATTGTATGCTGACTCTGTGCTAGAGCTTAATGTACATGAATAGAGTGTCATTTAAGCCCTATAACAACCCATTTAGTATTTCCTTTTCATAGATGAGGAAGGTAAAGCTCAGAAAGTTTAGTTCACTTGAAGATGGACACACAACAAGCATGTGGCACTGTTAGGATCTTTTATACATAAACCTTGCCTTTGTTCTTTAAGAATTTAGCATTAACATTATTTATTTGTTTCTGTTTTAAG
Seq C2 exon
GATTATAGATTTTCAGTTGTGTGTAATACCAAGAGATTGCACTGTTTTCCAATTCTTATGAATATTATCAGCAATGGGCTACTTCAAATGTTTAATCACACACAACATATTCGAATTGAGTCAAGCCCATTTCCTCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262:ENST00000284425:21
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(12.2=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(12.5=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGATGACTTTGAAAACAGAAATGGT
R:
AAGAGGAAATGGGCTTGACTCA
Band lengths:
214-2114
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