HsaINT0000511 @ hg38
Intron Retention
Gene
ENSG00000179869 | ABCA13
Description
ATP binding cassette subfamily A member 13 [Source:HGNC Symbol;Acc:HGNC:14638]
Coordinates
chr7:48278094-48281452:+
Coord C1 exon
chr7:48278094-48279920
Coord A exon
chr7:48279921-48281342
Coord C2 exon
chr7:48281343-48281452
Length
1422 bp
Sequences
Splice sites
5' ss Seq
AAGGTAATT
5' ss Score
8.83
3' ss Seq
GTATATATTTTTTTGCTAAGTGT
3' ss Score
3.44
Exon sequences
Seq C1 exon
TTTTGTCCCAAAAGATAAAATTCTAGAAATTCTGAAACTGGATCAATTTCTTACCCTGATGATACAAGACAGATTGATGAACATTTTTTCAAGTTTAAAGGAGACTATATATCACCTAATGAAAAGTTCATTTATATTAGACAATGGAGAATTTTATTTTGATACTCATCAAGGACTGAAGTTCATGCAAGATTTATTTAATGCCCTTCTCAGGGAAACTTCAATGAAAAATAAGACTGAAAATAATATAGACTTTTTCACAGTGGTGAGTCAGTTGTTTTTCCATGTGAATAAGTCTGAGGACCTCTTCAAACTCAATCAAGATCTTGGGTCAGCTCTTCACCTTGTAAGAGAATGTTCAACAGAGATGGCAAGACTTCTGGATACAATTTTACACTCTCCTAATAAGGACTTCTATGCTTTGTATCCTACCCTCCAAGAAGTTATACTTGCTAATCTAACGGATTTGCTTTTCTTTATAAATAATTCATTCCCTCTAAGAAACAGAGCAACATTAGAAATTACTAAGAGATTAGTTGGTGCTATTTCAAGAGCAAGTGAAGAAAGTCACGTCCTGAAACCCCTCTTAGAAATGTCTGGGACTCTGGTCATGCTGTTGAATGACAGTGCTGACCTGAGAGATCTTGCCACATCAATGGACTCCATTGTGAAACTTCTTAAGCTGGTCAAGAAAGTTTCGGGGAAGATGTCCACAGTTTTTAAAACTCATTTTATCTCCAATACCAAGGACAGTGTGAAATTCTTTGACACTCTGTATTCCATCATGCAACAAAGTGTTCAAAATCTTGTGAAAGAAATAGCTACTTTAAAAAAAATAGATCATTTCACATTTGAAAAGATAAATGATTTGTTGGTGCCATTTCTTGACTTGGCCTTTGAAATGATTGGGGTAGAACCTTATATATCATCAAACTCTGATATTTTCAGTATGTCACCTAGCATACTCTCATATATGAACCAATCTAAGGACTTTTCTGATATTTTGGAAGAAATTGCTGAATTTTTAACATCTGTGAAAATGAACTTGGAAGATATGAGGAGTCTTGCGGTAGCATTTAACAATGAGACTCAAACATTTTCTATGGATTCTGTCAACTTACGGGAAGAAATTCTGGGTTGCTTAGTTCCTATAAATAACATCACCAACCAAATGGACTTCTTATACCCTAATCCAATTTCCACTCATAGTGGCCCTCAAGATATAAAATGGGAAATAATTCATGAAGTGATCCCTTTTTTGGATAAAATATTATCACAAAACAGCACAGAAATAGGATCTTTCTTGAAAATGGTGATCTGTCTCACCTTAGAAGCTCTTTGGAAAAACTTAAAGAAAGATAATTGGAATGTTTCTAATGTGTTGATGACATTTACTCAGCATCCAAATAACCTTTTGAAAACCATAGAAACAGTTTTAGAGGCCTCCAGTGGAATTAAAAGTGACTATGAAGGTGATTTGAATAAAAGTTTATATTTTGACACACCTTTGAGTCAGAATATAACTCATCATCAACTTGAAAAAGCAATCCATAATGTTTTAAGTAGAATAGCTCTCTGGAGGAAAGGACTTCTGTTTAACAACTCTGAATGGATAACTTCCACAAGAACTTTGTTTCAGCCACTTTTTGAGATTTTCATTAAAGCAACCACCGGAAAGAATGTCACATCAGAAAAAGAAGAGAGAACCAAGAAAGAGATGATTGACTTTCCTTATAGTTTCAAACCATTTTTCTGTTTGGAGAAATACCTGGGAGGATTATTTGTATTGACTAAATACTGGCAACAAATCCCACTAACAGATCAAAG
Seq A exon
GTAATTAAAAAGCTGAATTCACTTTGTTTTTTTCTCTACCGCAGTAGCTATAAAATAGAACCATGCAGGAATTACAGTGAATCGGGGTAAGTAGTTCTTCTTGACTTCAACTTTGTTTACACTCTGAAGTTGGCTTCAACATAGAGCAATTCAGGTCCAGTCATTCTTTTTCATAATTCGACTCATTATTTGGCATTCAAATATAATTGCAGTTTATTCAAAATATTTCAAAAGTAAGTTATTTTATTCTCAGAAGCAAAAACCTCTTATTCTATTCACTCATCCCAAGACTAGTTGCATAAACAATTTTTCTGTTCATATCCTCTGGCAGCCAAGGGTCCTATGACTCAGTATACACACAAGAACATGAAGCTGCTTGCTTCACAGAAAATTATGCTTTCAGTTGTAGCTAACCACAGGAAAGGGCCAGGCAGCTGCTGGCTTCTGCCCTTTTTTGATTCTGCCAGACTTCACGTGGTTGATCCACCTCCAAGCCCTCCTATCGCTGAAAGTTATGTCCATAGAAACCTGTTCTTAAAAGCTCCAGTCTTGCTAGTTGTCATGCCTTGGAAGCAGTCTGTTGCCTTAGGTTGGAGACCCTGTGCCTCTTGATGTGCAGAGGCCCAGAGATGCTGCAGCTGTCCCTACCTGTCCTTTCTGTGGGTGAAAATACTGTTAGGGTGGTCCCTGGTCTCTGTTTCTCCCTGCTTTCCTCTCTGGCCCACATGGAGATTGGAGATGCCATGTCAACCCTGGTTCATTTGCCAGGCAGGCTGACTTATTTTCTGTTGGTTCTATTACTCCAGAGATGTACCTTGAATCCAGTCATGTTCTATGAGTTGGAAAGATGTCTTTAGTTGGTGAAACAGGTAGCCACTGGCACAAATAACTATTGCTACCTAGGAATTTGACTGCTAGTTTTCAGAGCTTCCTTCTTCATCTCCTCCTTGCTTCTGATGTCAAACTATATTTTGTTTGACTTTAGTGCTCTTCTCTGAATTGTCTTTTGAGCTGAGGTGGTCCTGGCAACCCCATTCTCCACCAATCTCAGGTTTTATCTCAAATTTTTCAGTTCTCCACAGAGGGAGTTTATACCTTAGCTCTTCATACCATCATGTTTTGACACCTTTTCAACATTTACCTTTGCATTTCAAAAGAATAGAACAAAAGAAGAAAGAAAAGCAAGTATTAAGCTTATTGGCCACAAAATTGATGCTTTGAAATAATTCTGGAGACCTAAAGTTTTCTAAAGGTCCAGAATGTGTTATCTGTGTTTTCTTATGTTCCTATGAAGAAAATATGATTATGCAGGGAGGGAGGATGGTTCTTACATGTGTGTTATAACTTAACCTACACAGTAGAGATGCACATGGGTTGCACATTTTTACCCTTTTATGTCATTGTATATATTTTTTTGCTAAG
Seq C2 exon
TGTTGTTGAGATTTGTGAAGTTTTCCAGCAGACTGTGAAGCCCTCAGAAGCCATGGAGATGCTGCAGAAAGTGAAGATGATGGTCGTACGTGTGCTCACCATCGTTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000179869:ENST00000435803:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.007 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
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:
AGCTCTCTGGAGGAAAGGACT
R:
GTGAGCACACGTACGACCATC
Band lengths:
357-1779
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