HsaINT0000667 @ hg38
Intron Retention
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94048868-94051698:-
Coord C1 exon
chr1:94051633-94051698
Coord A exon
chr1:94048958-94051632
Coord C2 exon
chr1:94048868-94048957
Length
2675 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
3' ss Seq
CTGGCTTCTGATTGGTGCAGGGT
3' ss Score
6.39
Exon sequences
Seq C1 exon
GAGACTATGGAACCCCACTTCCTTGGTACTTTCTTCTACAAGAGTCGTATTGGCTTGGCGGTGAAG
Seq A exon
GTGAGTCCTTTAAAACACAAATCTTAATGTTTGAAATCAACTCCTTGGGCTCTGTGCAAGATGTATATGGATCACAGAGGTGGCCCTCTATGTAAACGGTGTGATTCCTGATGAGTCAGCTGCCTCCTGGGGCTCTGCCCCTTGATGGGCATTGCAGCGTCTGGGGGACCACCTTTCACAAGTTGCTGGGCCCTGTGTGATCATGAATGGCTGATCATGGATGAAGCCCTGGGTCCTGTACACCTTGTCCAGTAGACTAAATTGCCCTATTTAAAAAAGGCCAAGCCACTTCAGGGTTCAAAGAACTTTTGCAGCTTTTCAGTATAAAGCAGAAATCCAGGGAATCATGAAGGAACCTTTGCATTCATCTCCCATTGCCTTCCTTGTGCCTTTTTATTCTTCTCTGCCTTTTCAAAATATAAATTAGTTTATTCTCCCAAGATGAAGACTCCTCCTGGGGCTGAGGCAGAGCTGTTATCTTCAGGGCAATACCTCAGATTCTCCTGGTGTTGATCTTTCTTAGGGGTGGGGAAAAAGGCTGAAAGGGCATTTGCCCACAACACATCTTAGGTAAAAGGCACCTTTACTACTGAACCAAACAGGAGGCCTAGCTAGAGAAAGTTCTAGAAGCAGGGAAAAGCACAGACTCTTTTGTGAGGTCTGAGAAAGCAAAGAAATTCCAGGGTGAAAGCGGGGGACTCCCCTAGAGCTGAAGTACTCTCCCATCTGTTTGTTGCTCACCTACCTATTCTTTACTTTGTATTATTGGGCCTGGGCCAGGACTTATCCTGCAAGCACTGAGATGGATGTTTGTTTTCTCTGGGGGATTAGTCTTTTTTTTTCTTTTTTTCTTTTGTTTTTTGCTTTTGTTTTCACTGGGTCAAACAAACAACACTTTAACAGCTCAGGATTTTTTCATTGTATTGACTTGTCTACCTGTAAACTTGTTAATTTTTTACTATAATAAAATTATCATATAATAAATGAAAAATTTCAACACAGGGCTTGTGGGCATTTTATTTTTCTCTACAATCCCAACAGATACTCTGCCTCTTAAGAAAAAAAGAAATCATAAGGAAAATATGCTCCTTCAAAAGTGAATCACAAATATGTTTGCCAACGGAAGGCAAATATTTTTCACCTGTCTCATAGGCTGGACTGAAATGGATTTCTAAAACTCTCTAAAACCAGAAAAGAGCTGAGTGTCTCCACCCAACCTCCCTCCTTTCACAGATTAAAAAATAAAAAATGGAGCCCAGGAGACATCCAGTATCTTCCCCTATTGGTCACCTGGGACAAAATCTGGAACATGCACATGCATTGCCTGGCAGGAACTCATTCCAGTGATTAAACTCTTCAGGAGGATGTTTCCTCTTGCTATTTCATTACCTATTTGTGCAGTTTGATAGCTAGTAAAGTGATCAAAGGAACTGTGGGGCATAGATTCAAAAGTCCTTCAGGAAGCAGAAATAGAAGAACAGTACTAGAGGCAGCAGGTCCCTGACCAGCAGGCCCACTACCTGCTGCTCCAGCACACATCCTGCACATTTTCAGAGGGTGGGGGACAGAGGGGCCCTGGGTGGCTGTTGCATTGAGAAATCTCGCCCTGCTCCTGTATGTGCACTTGAGGCCGAGAGCCCTTGGATGCCTGGTGACAGTGGTTTCCTCCTGCCCCTGCCTTCCTCTCTGGCAGACTGACTGGCCCTTCTGCTCCTCTTCCCCTTCCAGGATGTCCTGATATCTTTTTAAACCAAATGCCAAGTTTGCCAAAAAGTGTCTGTTTGTGTGTGTGTGTGTGTGTGTGTTCAATGCGTGTGTTTATACCACACTTCACAATTTGTCCAGGCTTGTATTAATACCATCACCAGGCTCAACCCTGGTGTTAATTCCAAGATACTTAAATGCCCATCTAGGTGAATTTCTCAGGTAAACCATATATTCAAGCTGTAGTTTAAGCTGGCTGCCCGTCATAGCACTTTGAATAGACTTTGTTTTTGTTTTTGTTTTTTGAGACAGAGTCTCACTCTGTCGGCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGTGAGCGCCACCCCACCCGGCTAATTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTGGTCAGACTGGTCTCGAACTCCTGACCTCATGATACGCCTACATTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACATCCGGCCCCTGAATAGACTTTTACTCAAGGTTCACCATGACTTTCACATGTTTTGTATTGGAGTAAAATGTGCCAGTGGTGGGCTAAAGAAAATTAACTCATTTCAAATTCAAACCTGGTTTTCTTAATTTTTTTAAAATCACAGTTTCTGAAACTGTGGGCTCCTCATGGCACATTGAGAGGAGGAGGTGAAACTCTCCAAGTCTGAAGCTCCTGTTATAAATCTTCCTCTGGCAAAGATTGTGTGATCAGGCTTGAGTACCTCACAGTCCTAGAGCAGGTCAAAGGCTGGCTAGGAAACTCATTTGCTCCCTGTACCTCTCCCCTCCTTTCCTGCCTTTGCTCGTTCTCAGCTCCCGGTGGTAGAGTAACACTGGCTTCTGATTGGTGCAG
Seq C2 exon
GGTGTTCAACCAGAGAAGAAAGAGCCCTGGAAAAGACCGAGCCCCTAACAGAGGAAACGGAGGATCCAGAGCACCCAGAAGGAATACACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691:ENST00000370225:17
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=0.806
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping 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