HsaINT0000528 @ hg38
Intron Retention
Gene
ENSG00000179869 | ABCA13
Description
ATP binding cassette subfamily A member 13 [Source:HGNC Symbol;Acc:HGNC:14638]
Coordinates
chr7:48372168-48374416:+
Coord C1 exon
chr7:48372168-48372497
Coord A exon
chr7:48372498-48374346
Coord C2 exon
chr7:48374347-48374416
Length
1849 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
3' ss Seq
CTCCATCAATCTGTGGGCAGTGC
3' ss Score
5.14
Exon sequences
Seq C1 exon
TATATGCGGATGATGGGAGTGCATCCAGTGATCCATTTCCTGGCCTGGTTCCTGGAGAACATGGCTGTGTTGACCATAAGCAGTGCTACTCTGGCCATCGTTCTGAAAACAAGTGGCATCTTTGCACACAGCAATACCTTTATTGTTTTCCTCTTTCTCTTGGATTTTGGGATGTCAGTCGTCATGCTGAGCTACCTCTTGAGTGCATTTTTCAGCCAAGCTAATACAGCGGCCCTTTGTACCAGCCTGGTGTACATGATCAGCTTTCTGCCCTACATAGTTCTATTGGTTCTACATAACCAATTAAGTTTTGTTAATCAGACATTTCTG
Seq A exon
GTAAGTAAGTTGTTTTGTAAAAAAAAAAAAAAAAAACAACAAAATTGCAATCTATCTAACAAGACAAAATCCCACCACTCTCACTTTTTCAATTTGTCATGTTCATATCTACATGGGCTTTCTGATATCTGCTTTTTAAAATCTTACCCACAAATGCAAACCGTTGAAACTGCAGGGTTTTTGCTGGACAGCAGCCCATTAAGAATGTCCAGTTTTTACATAACAGAGACTTTCTGCAGATTCTGGAAAATAAGCAACATTCTTAAGGAAGCATATAACTTTATTTTCTCTTTCATGCACAGAAAAAAGCTAGATTTCTAAAGCAATTTTAGAAGTAAAAAATAAGCATTTTTTCTTGAAACATTATGAATTACATCACATTAAGTGGAAAAATCTCTCTGTTAGCAATGTCAGAGTCACTCATCCATTTAAAATGTACCTCCTAAAAACGTATGATAACACTTTCAGGTCTGTAACATCAAATACGTAGAACATAAAAAAGTATTCATTCTTTTATGGCAATTGCTGGCAAGCGCAGTGCCTGACACATAGTAGGAACTCAATCAAAGCGAGGGTGAACCATCACTATTAAAATGATCTGTTTCAGAGAGCCAGTGGCATCACTATAAACACTTGCACTGTGCTCAAGACTTTATTCTCTCCAGCAGGTCAAGTGACTTCCTAAAATTGCAGTCTGTTGAGAGATAAGACAGAGTCATTAACAGAGACTTTGGGGAGGTGTCAAGGAGACCTAGATTACGGGGCTGCTCAGGGGTATTTAAAGGCCCTTAAAAGTCCTTTAGTCCAGCACAGGATTCATGACGGCCCCAGTGCTTCACTCACTTATTGGGAGCAAAACACCTTCTCTGCTCATTTAGGGCCTAGAGTAAAATATTTCTATGAAAGCCAAGTGATTTGTCTTCAACTTCAGTAAACGATTCAAAGCTGTCTGGTTTCTACTAGCCATATGCTCACAACAAAGATATACATACAGAATGAAAAAGTGGTTATATTCCATCAGTGTTTTATCTATTGGTATGTGTTCATTGGTCTTGATTAGCTTATGTTACATTTGTAAAAACCCATAACCAATAACTTCCTGTTAGTGTTAATTAGCTGTTTTCAGAATAATTAACACAAGTGGGACCATTGGTGGTCCTTCCCCATATACTCCTTGTACATAGAAAAAGAGTCATCCATGATCTGACCTGATTTTCAGATGGTGTTATTTTTAATTTTACTTCAGTCATTATATTCGTGGGTTCTGTGCACATAAAATTTGATTTTCTGTTTACATATTCAAATGCTTTCTAGCAAGTAAAAAATATCTAACTCTGGTACACTGTATTTTTTAATGTAAGATATTTTTTTCAATGGGGTTTCGTTCTAACATAAGACTTCTCCACTGAGATACAATAACATTTTTCTTCAATACACCTTCTTTCTAGTGTAGAATAGTGTATGCATTCCATCAGTCAGCCTGCAGTGTGCTCCAGGGCATTCACTTAATAATAAAAAATAGTAAATTACTCTATTCCAGTTTTCACTGTTTTGTGTTACACATTTCTGTGTATGATACATTGGATTTATGACACTTCAAGCATCTCGGTAAAGAGAAATAATTCCTTTTAACGTTAAAAACTAGCTTGTTATCATGCTTTTCAGAGTGGGCTGACATTCCGCTAAGATTTTCAGATCAAAATATTTAAATGACTGCCTGAAGCGATGGTTGGGCGTCATCAGAATGAAAAGTTGTCATGGCTTCGCTCCTTGAATTAAGTGTTGTGGATTTTCTGTGGTCCCAATCAAAACACTAACGTGCAGTTTTTCTCCATCAATCTGTGGGCAG
Seq C2 exon
TGCCTTCTTTCGACAACCGCCTTTGGACAAGGGGTATTTTTTATTACATTCCTGGAAGGACAAGAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000179869:ENST00000435803:33
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(23.2=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(4.9=100)
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:
TATGCGGATGATGGGAGTGCA
R:
AAGGCGGTTGTCGAAAGAAGG
Band lengths:
351-2200
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