HsaINT0000669 @ hg38
Intron Retention
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94044613-94047093:-
Coord C1 exon
chr1:94046919-94047093
Coord A exon
chr1:94044745-94046918
Coord C2 exon
chr1:94044613-94044744
Length
2174 bp
Sequences
Splice sites
5' ss Seq
CTTGTGAGT
5' ss Score
7.15
3' ss Seq
CTGACGCCTGTGTTCTGCAGGTC
3' ss Score
9.61
Exon sequences
Seq C1 exon
ACTCCTTCTTTGAACGTGAGCATCCAGGGTGGGTTCCTGGGGTATGCGTGAAGAATCTGGTAAAGATTTTTGAGCCCTGTGGCCGGCCAGCTGTGGACCGTCTGAACATCACCTTCTACGAGAACCAGATCACCGCATTCCTGGGCCACAATGGAGCTGGGAAAACCACCACCTT
Seq A exon
GTGAGTCTTCCAGCAGAGAAGCTGGCTGCCATGCTAGCCTGTCATTTCCTGGCTTAGTCTTTCCCTATCAGCGGCTGTCTACTCTTTCCCACAAATTTTAGTGACAAATATTTGCGGCCCCAAAAATGTGTAAAAGCTTTCTGCAGTATTCAAAGATCACTAATATGTATTCTCTTGATGGGGAGGTAGAATACGTTTATTGCCCCTTTTGTGTGCCGGGGAAGTGGACATTCATTCAGAGAGTTGAAGTGACTTTCCTGAAGCCACCAAGTTGTCATGGCTCAGCGGGGGCAAAAGCCAGGCACCACAGTTGCCTCTTGTTTCTCACACCTTGAGTCTTTCCCCCCATCTCAACAGTCCATGGTGGTGATCAAGTCATGGCCACTGTCATCATGTGCATGGAAGCTATAGAGTCCTCCTATTTCCTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGATAGTAACCATTACCCATGCTGGAGGGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGATCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGGTGGGACTACAGGTGCATACCACCATGCCCAGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTAGTACAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCGACCGCACCAGGCCGAGTCCTGCTATTTTCAAGGAACATTCCTTTTCCTACCAATCATTAGGCAGGCTTCAACATCAGCTGATGAGGGTTAGTGGTCGTTCTGGAGAAAGTGAAAAAAGAATCAGTCTCTAGAGGGGCTTGTGGAGTAACCGCCTGGTAACAGAAGGTCAGGGCAGGGAAGGCAAAGGGGCTCTGCGCGGATCTCTCAGCTCCGCAGGCGCCCCACTCTCCTCCAAGGGACCCGAGCGCCATCTGCTGAGAGGAGAACACGGCCCGCCATGGTTTCCCAAGGAGCAGCAGACACGGACCTCGCAGGGGGCAGCGAACCCACGTGACACAGTCTTCAAGTCCTTTGGAGAGCCCCAGGAAGGAACAACAGCGTGTACACCCTGTGATGGAATGTTCTCTAGGGCGGTTCAGTGTGAATGGAATGTGGGGCCGGTGCCATTCTAATTGGTTCTGTTTCCCTCTAGTGGTTGATCGCGGAGATTTCGGCTTCTCCATCAGGACAAGTTCAGATAGCCTGAGATGGTATCAGAACTCAGGGACAGAGCTGGGTGTGGCGGCCCTGCATCCATCTGCTTTCTCTCCATGCTAACTGATATGGTCAGAGAGCTGGAAGCAAATTCCAGGACCCCAGGGCTCCGCAAAGGCAAACACATTACTTCATCGGCTGCTGACATGCAACTTCCCCCAGGGGTTAAAACAATGTTTAATACTAACAGTAATAATATTTTTGAGTTTTACTTTATGCTGGCGCTGTTCTAATGTTGTAAGTGTATTAACTCATTTAAGCCTTACAACAACCTAAGGACATGGGAGTCATAGTTCCCATTTAAAAAAAAAAAAAAAAAAAGCCCACCATTGCTCTGAGGCTTTTTATGTTTTGGATCCAAAGCTAATATTGGTGGTGGTAATTCCCATGCCTGGCTTCGATCAATTAATCAGCAAATGCCTAGGACTGCTTAGGGTTCTGGCCTTCATCAAGACCTTACCCGGGCTTTATGATGATGACACCTGGCTTTTCAATAGCCATGACTGCTCACCCAGGAGGCAACGCCTCGAGTCATGCACCGAACACCTTTTATTGATCCTCTCCAACACCAGGCTCCGTGATGGCTGAGCTGGGGACACCTGTGACTGCACGTGAACATTTTGAGGCTGGGAATCCCAAAGGCCCTCGGCGTTGGCCTGGGAGCACCATGAAACAAGTAGAAGCAGAGAAGGATGGCAGAGGTGGCCCTCTGCATTAGGGCCTGGATGTATACACTGGTGCTAAGGGGGCCCCACAGCTAATAGGGGTTTGAGTTTGACTGACAGCCCCAGGCAGGAATCTGTGAGAGTTCTCACTGAACCTGGTGTGGGGGTGGCCCTCCTAAGGCATGTTGCTAAAGGCCATCTCTTCTGCCACTGACGCCTGTGTTCTGCAG
Seq C2 exon
GTCCATCCTGACGGGTCTGTTGCCACCAACCTCTGGGACTGTGCTCGTTGGGGGAAGGGACATTGAAACCAGCCTGGATGCAGTCCGGCAGAGCCTTGGCATGTGTCCACAGCACAACATCCTGTTCCACCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691:ENST00000370225:19
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.042 A=NA C2=0.089
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=PU(18.6=45.8)
A:
NA
C2:
PF0000522=ABC_tran=FE(30.3=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
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
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development