HsaINT0000636 @ hg38
Intron Retention
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2292140-2295740:-
Coord C1 exon
chr16:2295590-2295740
Coord A exon
chr16:2292239-2295589
Coord C2 exon
chr16:2292140-2292238
Length
3351 bp
Sequences
Splice sites
5' ss Seq
CAGGTACGC
5' ss Score
10.12
3' ss Seq
ATGCTGGGTCTGTTTTTCAGGTT
3' ss Score
9.65
Exon sequences
Seq C1 exon
GTGCCGGCTATCACATGACGCTGGTGAAGGAGCCGCACTGCAACCCGGAAGACATCTCCCAGCTGGTCCACCACCACGTGCCCAACGCCACGCTGGAGAGCAGCGCTGGGGCCGAGCTGTCTTTCATCCTTCCCAGAGAGAGCACGCACAG
Seq A exon
GTACGCCTCCCAGGGAGGGCACGCACAGGTATACATCCAAGATGGGATCCCCATGGGCCATGAGGGCTTTGTGCTCAGAGGCACCTGCTCTGCCCCTCTCTGGCCTGGCCAGTCGGCACTCTTAGACCCTCAGCCTGGGCACCATCAGCCCAGATGAATCTGCTTGGCTGGGTCCTAGGTGCCAGGCCTCCTAGCAAGGAGAAACATAATTAGGACCTGAAAAGGAGAAGCACGTATCTGACTCACCAAAAGGGTGCTCAGCGCTGATGCAGGGCTCACACTCCCCCTTCTGACACCAGGCTCAACACGTGCTGCGGCTGCACTCAGAACTACTCGTGAAACCGAGTCTGTATTTGTATGTGGGTGGTGAATTTGGTCTCAGTGTCAGAGCTGGAGATGTTACCACCTGCTCATCACTGTCTCACACACACGGCAGAACCAGCAAGGGGAGGGAAGCCAGTGTTCCATGACACTATCTATCAGTCTGGATATTATCTGGATAATATCAGTTTATTGCACTTTTCTCCAGTTTGTTGTTTGATTTTGTCAGATTTTTTTCCATTTTACATTTATTTATTTTATTTGTTATTTATTTATTATTTGTTTTGAGATGGAGCCTCACTCTGCTGCCCAGTCCAGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGTCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAAGATGTCAGGCATGAGCCACCATGCCTGGCCACATTTGTTTATTTTAAAAACAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAACTCACTGCAGCCTTGAATTCCTGGGCTCGTGATCTCCCACCTCAGCCTCCCGAATAGTTGGGACTACAGGTGTGTATCAACATGTCCGGCTAGTTTTTTTATTTTTTTTGTAGAGATGGGGTCTTGTTATGTTGCCCAAGCTGGTCTTGAACTCCTGGGCTTAAGTGATCCTTCCGCCTCAGCCTCCCAAAGTTCTGGGATTCCAGGTGTGAGCCACTGCACCCGGCCTAGATTTTGTACTTAATGTAGCAACATCCTTTCTCTTGTGACTTCTTCTATTAATTTTATTCTTAGAAAGTGTTTCGCAGCTGTGCATAGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGACCATGAGGTCAGGAGATCGAGACCATCCTGGCCAACACGGTGAAACCTCGTCTCTACTAAAAAAAAAAAAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTGAACCCAGGAGCAGAGGTTGCAGTGAGCCGAAATCACACCCCTGCACCCCTGCACCCCTGGATTCCAGCCTGGGTGACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAGAAAGAAAAAACCAGGGAATCAAACCATATGAACCTCACTTTTAGCCAGGCATGGTTGCTCATGCCTGTAATCCCAACACTTTCAGAAGCCAAGGCAGAAGGAGAAGGAGATCAGCTTGGGCGACATAGTGAGACCCCATCTCTACAAAAAAATTAAAAATTAGCCACATGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGAGGCCGAAGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGCATGAAGCCGGGAGGCAGATCTTGCAGTGAGCCAAGATCGCGCCACCGCACTCCAGCCTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAACTTAGCCACGTGTAGTTGTGCACACCTGTAGCCCCAGACACTTGGGAGGCTGAGGTGAGAGGATTGCTTGAGCCCGGGAGGTCAAGGCTTCAGTGAGCCGAGATTATACCACTGCACTCCAGCCTGAGTGACAGACCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAGGCATTTTGGCCAGGCACGGTAGCTTGGTAGCTCATTGCCTGTAATCCCAGCACTTTGGGAGGTCAGGGCAGGTGGATCACAGGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTATAGTCCCAGCTACTCTGGAGGTTGAGGCAGGAGAATGCCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGACTGTGCCACTGCACTGCAGCCTGGGTGACAGAGCAAAACTCCATCTAAAGAAAAAAAGAAAAAAAAAGGTATTTCAAGGAATTAACCTCCTGTGGCCCCTGCCCCATTCTATAGGGGGATTAGGGGGGTGATTCATTTTAGTTTAGTTTAGTTTAGTTTTTGGAGACGGAGTCTTGCTCTGTTGCCCGGGCTGGAGTCCAGTGGTGCGATCTCAGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACAAGCCGCCATGACTGGGTAGTTTTTGTTGTTGTTGTTGTTTGTTGTTTTGTTTTGTTTTATTTATTTTAGTAGAGACAGAGTTTCACCGTGTTGCTCAGGCTGGTCTCGAACTCCTGAGTTCAGGCAATTCGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGATACTGCACCTGGCCTCCTTATTTTTTTAATTTTATTTATTTATTTATTTTTTTGAGACAGAGTTTCACTCTGCCACCCAGGCTGGAGTGCAGTAGCGCAATCTCGGTTCACTGCAGCCTCCACCTCCTGGGTTCAAGTGTTCTCCTGCCTCTGCCTTCTGAGTAGCTGGGACTACAGGCACCTGCTACCACACGTGGCTAATTTTTTATGTTTTTAATAGCGACAGGTTTCACCATGTTGACTAGACTGGTATCGAACTCCTGATCTCAGGTGATCCGCCCGCCTTGGCGTCCCAAAGTGCTGGGGTTACAGGTGTGAGGCACTGTGCCTGGCCGAGGGGGGGTGATGCTTTAGGAACAAATTATCTAGAAAGTCACTGAGAAGTGACTCATAATGCTGGGTCTGTTTTTCAG
Seq C2 exon
GTTTGAAGGTCTCTTTGCTAAACTGGAGAAGAAGCAGAAAGAGCTGGGCATTGCCAGCTTTGGGGCATCCATCACCACCATGGAGGAAGTCTTCCTTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972:ENST00000301732:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.039 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
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