HsaINT0000630 @ hg38
Intron Retention
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2300005-2304150:-
Coord C1 exon
chr16:2303969-2304150
Coord A exon
chr16:2300149-2303968
Coord C2 exon
chr16:2300005-2300148
Length
3820 bp
Sequences
Splice sites
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
3' ss Seq
GCTGTCTGCTTCCCTCCCAGCCC
3' ss Score
8.18
Exon sequences
Seq C1 exon
GCATGGGCATCCAGTGGCGAGACCTCCTGAGTCCCGTCAACGTGGACGACGACTTCTGCTTCGGGCAGGTGCTGGGGATGCTGCTGCTGGACTCTGTGCTCTATGGCCTGGTGACCTGGTACATGGAGGCCGTCTTCCCAGGGCAGTTCGGCGTGCCTCAGCCCTGGTACTTCTTCATCATG
Seq A exon
GTGAGTTCTGATGCCCTGCTCTTGAGCCGCCGCCTCTCTGAGTGCAGAGGTGTCCCCAGTACCTGCTCAGGGACCCCTCTGAGTCCCCAGCATGCAGCACCTGCGTGGGGCTGGCACACAGAACCCTGCCCTGTGCACAGGGAGTGGCGTGTCCCCCGAGGGCCCTTGGGACTGGTTCAGAGAGAGAAAGACCCTCCATGCCCAAGAGTAATCCTTCCGCTTCAGAGCCTGAGACAGAGGGGTGCAGAGAACCGGCTGCTCTGGCCCCTCTCTGCAAGACCCACGCACGCAGCCTCTGCTGCCCACCTCCCTCCTCAATCCTGCCTCCTTTCTTGTGAAAAGTATCTTATTGGGTTTTCTACCTACAAAATCTAGCTTCTTATAAAAATGTTCACATTCGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCTCTTTGGGAGGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACAAGGTGAAATCCCATCTCCACTAAAAATAAAAAATAAAAAAAAAACTAGCCGGGTGTGATGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGCAACACAGCGAGAGTCTGTCTCAAAAAAAAAAAAAAAAGAGAGAAAAAAAGTTCGGATTCCTGAAATCTATAGCTCATTCCCACTGGTGAGATGAACACTGTTGACATTTGGTATGTACTTTGCTGGGTTTCCCTCTCTACACTTACTGTCATAGAGCACAGATGGATGGACATATAGCATAGTTTCATAAAAATGTGATTGGAGGCCGGGTGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCTGTTTCTACTAAAGAAATACAAAAAAAAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTCTAATCCCAGCTACTTGGGAGGCTGAGGCAGGGAGAACTGCTTGAACCCGGAAGGCGGAGGTTGCAGTGAGCTGAGACTGTGCCATTGCACTCCAACCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATGGGATCGGGGTGGACATAGTCGCTCATCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGAAGGATGACTTGAGGCCAGGAGTTAGAGACCAGCCTGGGCAACATAGTGCAACCCCATCTCTACAAAATAAATAAAAAATTTAAAAAATTAGCCAGGCGGCACATGCCTGTGGTCCCAGCTACTTGAGAGGCTGAGGCAGAAGAATCACTTGAGCCCAGGAGGCTGCAGTGAGCCATGTTCACACCACCACACTCCAACTTTGGTGAAAAAATGAGACCCTGTCTCAAAAAAAAAAAAAAGAATCATATTGTAAAAAATGCTTACAAGTTGCTTTTCTTAACCTAACAGTACAACTCAGATATCTTAAATACATATATATGTTTGTCTATTTATAAATATAGTTTTAAACTATTATCTAAACATATTGATGAATGTTGTTATATTTATAAATATATTTCTACCTAAGTATTACCTTTTTAAGAATCACTGCCGAGACCAGCTCGGTCGGGGAGACCTTAACCCAGCGGCACTAGAGGAATTAAAGACACACACGCAGAAATATAGAGGTGCGAAGTGGGAAATCAGGGGTCTCACAGCCTTCAGAGCTGAGAGCCCCGAACAGAGATTTACCCACATATTTATTAACAGCAAACCAGTCATTAGCATTGTTTCTATAGATATTCCATTAACTAAAAGTATCCCTTAAGGGAAATGGATGGATGGGCCGAATTACTTGCAGCAGGAACACGCCCTTAAGACACAGATCTCTCAGGCTTTTGTTTGCGGCTTAAGAATGCCTTTAAGCGGTTTTCCGCCCTGGGCGGGCCAGGTGTTCCTTGCCCACAACCTTCCAGCTTGGGTGTTATGGCCATTATGGACGTGTTACATTGCTGCAGAGATTTTATTTATGGCCAGTTTTGGGGCCAGTTTATGGCCAGACTTTGGGGGGCTTGCTCCCAACAAACCACCTTCATTTATAGTGACACACAGTGTTCCATTCTGTGGGCCCATCAACATATACTTAACTGATTCCCTACCGATGGCTAGTTAAGGTCATTTCTTTTTTTTTTTTTTTCTTTGATTCGGAGTCTAGCTCTGTTGCCCAGGCTGGAGTCCAGTGGCGCGATCTCAGCTCACTGCACCCTTCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACTACACGCACCTAATTTTTTTTGTATTTTTATTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCACCACCTCCAGCCGAGGCCATTTCTGTTTTCATTCTTTGCTTCCACAAGTAGTTATCAAGTGTTCACTACTGTAATCCATCAACTGTAAGATGACACTGACCGTTAGAGGTAATGGTTACTTTGTCTATCACTAAGAAAGAAAAATGCCACACTTACACTATGGCATTTTATAGTTTAAGATGCATTCTGATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTCGAGCCACCGTGCCCAGCCAAGATGCATTCTGATTTTAAAATCACTTTACATATGAGAGCTGTGTCCCTGAGAACCAGTGGAGTGCAGTGTGTGCCAGATGCCGTTCCAGGTGCTGGAAGTGCACTGGGCGTGGAGCTGCGGGTAAACGAGTCCCCGCCCCGCAGCTGCCCTGGCACTGATCCTGCCAAGGCACTGCTTCCACCTTCCCTGCTGCTCTGCCCGCACCACTGTGTCGACTGCCTCCATGTAGGCACCAGGCTGTCCTCGAGGGCACTGTGTGAGGTGTGTGCCTGTGTTCTTACCCCATGCACTGAGTTATTTCTGTGATGGCCACAGAGAAGATGGGAAGAGGCTTCCTCATAGTAGAGGGAGGCGTGGCGCCTTCGGCTTCTCTTGCTTACAGTCATGAACTCATGTGGGGCTTGAGCAAAGAAACAGCCGGGTGGCATGGGGACACAGCTTTCTTTCCATTTTGGCTCCAACATCCCTCTGGACTGGAGCGTTAGATAACTTCTGTCTATGAAATTTCATAGCTGACAAACTCCCTTTGCCCTGTATCGGATCTGAGTTCATCTTCACAAGCCTGTATGTAACCATTACACCCACTTACCAGGTTAGGAAACTGAGGCTTAGAGCCTTCACAGGGATGAAACAAGTTGGGACTCTCTGGGGCTCTCCCTGAGTAGCGCCTTCTCCACAGCAGTGCCTCGAAGTCCTGGGACAGAGGCTGCATGGCTGTGTGCATCTAGTGTGTCTGCTGGTTGTTGCTTTGCTCGTCACAAACAAAACAAACTGACAGCTGTCTGCTTCCCTCCCAG
Seq C2 exon
CCCTCCTATTGGTGTGGGAAGCCAAGGGCGGTTGCAGGGAAGGAGGAAGAAGACAGTGACCCCGAGAAAGCACTCAGAAACGAGTACTTTGAAGCCGAGCCAGAGGACCTGGTGGCGGGGATCAAGATCAAGCACCTGTCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972:ENST00000301732:12
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=0.236
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(8.9=65.6)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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