HsaINT1000121 @ hg38
Intron Retention
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94001858-94005582:-
Coord C1 exon
chr1:94005441-94005582
Coord A exon
chr1:94001993-94005440
Coord C2 exon
chr1:94001858-94001992
Length
3448 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAAA
5' ss Score
4.51
3' ss Seq
CATTTCTTTCTCTTCCCTAGGTT
3' ss Score
12.46
Exon sequences
Seq C1 exon
TATTTTAACCAATATTTCTGAAGTCCATCAAAATATGGGCTACTGTCCTCAGTTTGATGCAATTGATGAGCTGCTCACAGGACGAGAACATCTTTACCTTTATGCCCGGCTTCGAGGTGTACCAGCAGAAGAAATCGAAAAG
Seq A exon
GTGAAAAATGTTTTGTTGTGGCCACATAGGAGTCTGGTTAATTACAAGCCTGTTTCATGAGAGTGCATTCTCTTGGAGATGAGAAACTGAAGCGTGCTATTCATTCATTCATTCCAACAAATGTTTACTATGTGTCTACTGTGTGCCAAGTACTGTTCTAGAAACCAGGAGTATAGCAGTGAACAAGACAGACAAAAAAAAATCCCCACTCTCATATCTAACAAAATGTTGTATGCATTTATCCTCTGACTCAGCAATCACACGTCTAAGAGTTTATCCTGAAGATGCATCTCCCACAGTGCAAAATGAATATGTATAAGGTGATCCATTGCATTTGTAATTGCAAAATGCTGGAAGTTACCTAAATGTTTAGTCATTGTAGATTGGCTGAATAATTTATGGTACAGACACACAATAAAGTCTTACGCAACTATAAAAAAGAAGAAGAAAAGTCTCAGTAAACTGATATGGAGATATTTCCAGTAAATACTGTTAAATGATAAAAAGCAAAGTGGAAAACAGAACATAGAGAACGCTACTTTGTATGTAAGAAAGAAGGAAAAACAAGAAAGTAAACGTATGTCTGCTTACCTTTGCAAATAGAACGTAGAAAGGATAAACCAGAAAACAATGAATTTGGTGATCAACAAGAAGAAAATGGGAAGAAAGAAAAATGGGAGGAAACAGTACTTCTGGGGATATATTTTTGTATAGTTTTAATTTTTGGAAGCATGTTAATGTTCCACATATTCAAAAAAAATCAGTAAGAATGGGAAGTAGGCAAAAATGAAAACAAAAAGAAAACCTAACACTGACAGCAAACTAAATAAAGTAACCCAATTTTATTTCAAATAAATATCATAATCTTGCAAAAGGGGGATAGAGCTAACACAAACAACTGCTGAACACAGTGTTTGACTCTATATCCTCATTCTTGGGCAGGGTGGAGCGGGGGAGAAGAACTACAAATAATTTCTGAGTTCTTTTTAGTTTGTTTTTTATAGTGGTATAGGCAAAGTGATTCTGAAAATTTTAGATGTGTTACAGGATTAAATAAATTAATAAATGTTTTGATGTTATTGGGACCCAGAATTCTCACCGTGGAAGAAGGGACTTACAAATATGGAAAAGGGAAAAGCAAGAAAGAACTGTGAGGTCATGGATAGGAACCGGAGGTAGCACTGGGAATTCAGGAATATTTATATGCTTGTGTTTGTGGGTGCATGCAGATGTGTTCATGTTTCATGCACATAGGCATGTATATATAGACATATATTTGCATGTGTGTATCTGTCTTCCGAAAGGCTCAAGAAGCAAAAACACCCCAGTAGCCATGAGCACACTTAGCACTCAGGCTTTTGTCTTAATAACATTCCCCACTAAAAGTAACCCTGATTCCTCCAATAAATGATAAGTTCCAGGGCTGGAATGGCATAGGTATAAAATGAACCTGGAATATCTTATGCCAGAAAGTAAGGAAGTGCTTTTAAAAAAAAAATAAGGGGCTGGGCATGGTGGCTCACACCTGTAATCGCAGCACTTTGGGAGGCCAAGGTAGGAAGATCGCTTGAGCCCAGGAGTTCCAGATTAGCCTGTGCAACATAGGGAGACCCTGTCTCTACAAAAAATTAGCAAACAAATTAGCTGGGCCTGGTGGTGCACGCCTATAGTCCCAGCTACTCAGGTGGCTGAGGTGGGAGGAATGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGATCAAGCCACTGCTCTCCAGCCTGGGAAACAGAGCAAGACTCTGTCTCTTAAAATAATAATAATATAATTTTAAAGAAATAAAAGTAACTCTGTACAGATTGCTTATTGGTTACATGGGAGAAACATAATAATTTTACAATGGAGAAATTAGACAGCACCTTAACTGGGTGATCAAAATTAACCATAAGGGGCAGATGGACATCTCATGCCCCGAGATGTGATACCCTGTGAAGGACACAATTTCACTTATGTAGAATCCAGATTGGAGATATGTAACCTGAATCTTATCATGAGGAAACATCTGACAAGCTCCAAAGAAGGAATATTCCTTAAAAAAAAAAAAAGGAGACTGTATTCTTCAAAAACATAAGAGTCATAAAAGACAAAGAAAGAGCTATGGAAATATCTCTGATCGCAGGAGGCTAAACAGGCATAATGACTGAATAGCAGACAATAGACTACATCTTGTGCAGAAGAGAAAAAAAATGATAGAAGGATATTATTGGACCAACTGACAAAACTGAACTATGAACAGTAGATTAGGTAAATGTATCATAACATTAAGTTTACTGACATTGATAATGTACTGTGGTTATGTAAGAGAAGATCTCTATTCTTAGGAAATATGCCCTGAAGTATTTAGGAGTGAAGGGCTGTGATGAGTAATTTACCCTCAAATGGGTCACAAAAAATTGTGTGTGAGAGAGAGAAGGGTTTTATTAGTTAATAATTCTATGAACTATTTTTATTCCTATATGTTTGTGTGAGTTTGAAACTATTTCCAAATAAAAAGTTAAAAATGGAGATTACATTCTAGTGGGAGGGATAGACGATCTGTAGATAAATAGGTAAAATATCCAGTACATTAGAGAGTGAAAAGTCCTCAGGGAAAAGTAACGCAGGGAGGAACTGCTGGGGCAGGGTTTGCATTTTGAGGTAGGGTGGCCCAGGGAGAGCCTGCAGAGGAGAGAACCTGAATGAAGAACTAGAGGTGAGAGAAGGAGCCACGTGCACACCTAGGGAGGAACATTCCAGGCACGGGGGACTAGTATAGAAGGCAGAAGCATGGTGAGCTTGTCTCCAGTGGCTTCCCTAGATCCCCTCCTGCGCATGTGCACACACACCTGGTGTCTCTGTCATCGTTCCCTCACAGCACTGTCACGATCTGCCAGTATTCTGTTTATTTTGACTGCCACCTCCCCGCAGTCTGAGGATAGCAGCAATGGCTGTGTTCACATTGTTCTCCAGTGCCTGGTTCAGTGCCTGGCGTATGGTCAGTGCTCCATAGGTATGTGTCGGATGCACAAGGCTTTGGGTGTAACCCTCTTGACGGGTGGGATCAACAGGTCTGGGACTCACCATCTTCTCAAACAGAGCCTTCCTCCTCCACTGCTAGCCATGGTCCAGGACGCTGGGCGAGACCCACTGTCTTGCTCTTTGTAAGGCTGAAGTCCATTTCCCAGGCGGCTACACCCAACAGATGCTGAGCAGGCTGGGCCACCCTGGGATCCAAGACACAGAGAGAAAGAGCCCCTGTCTGGCGCCTGAAGCACATGCCAGAGGACAGGAGCCAGCAGGAGCCTGTTTCAGCCTAGCTGGGGATTTCATTCTGGAGGCGTGAGATCTGGGAGCCCAAGGCTTTGAACTGGGGGAGGTTTGGGGTGTTTGCTTGTCTTCTCCAAATGGCATTTCTTTCTCTTCCCTAG
Seq C2 exon
GTTGCAAACTGGAGTATTAAGAGCCTGGGCCTGACTGTCTACGCCGACTGCCTGGCTGGCACGTACAGTGGGGGCAACAAGCGGAAACTCTCCACAGCCATCGCACTCATTGGCTGCCCACCGCTGGTGCTGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691:ENST00000370225:44
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:
PF0000522=ABC_tran=FE(32.4=100)
A:
NA
C2:
PF0000522=ABC_tran=FE(30.3=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
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