HsaINT0000701 @ hg38
Intron Retention
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:93996109-93998110:-
Coord C1 exon
chr1:93997861-93998110
Coord A exon
chr1:93996196-93997860
Coord C2 exon
chr1:93996109-93996195
Length
1665 bp
Sequences
Splice sites
5' ss Seq
CAGGCAAGT
5' ss Score
3.1
3' ss Seq
CGCTCTTCTCTTACCTCTAGGTG
3' ss Score
13.19
Exon sequences
Seq C1 exon
ATTTGGAGATGGCTATATCGTCACAATGAAGATCAAATCCCCGAAGGACGACCTGCTTCCTGACCTGAACCCTGTGGAGCAGTTCTTCCAGGGGAACTTCCCAGGCAGTGTGCAGAGGGAGAGGCACTACAACATGCTCCAGTTCCAGGTCTCCTCCTCCTCCCTGGCGAGGATCTTCCAGCTCCTCCTCTCCCACAAGGACAGCCTGCTCATCGAGGAGTACTCAGTCACACAGACCACACTGGACCAG
Seq A exon
GCAAGTTGGCCCTGGGGCACCGAGAGCTGAGCAAAGACTGGTCCAGAACACCCAGTGTGGGTTGGAATTGCCATAAGAGGGAGGCATAACATTCCCGATTTTTAACAAACTCTTGCCCTCTGTTTATTGGGGTAAAAGCTGATATATCAGAAATTGTTTTCTAACAATATTTTTTAGTCATCAGGAAACTTCATTGATTCTTTTTTTTACATTTTCCTTCCCTGTGATGCTATGGTGTGTTATTTCATTCTTGCTCGTTTGTGGTGGTGGTTTTTCCTTCAAATCAGCTTTATTGATGTGTAATTAACATACGATGAAACACAGGTTCTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAAGACAGGCCCATGTAACAAAGTGAGACTTTGTCTCTACAGAAAAAAAAAAAAAAAATCAGAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTGGTCCCATCTACATGGGAGGTTGAGGAAGGAAGATTGCTGGAGCCCAGGAGGTCAAGGCTGCAATGAGCTGTGTTCATACCACTGCACTCTAGTCTGGGTGACAGAGCAAGCCCCTGTCTCAAAAAAGCAAAACAAAACAAAAACACCTATTTTAAATGTACAGTTTAGTGAGTTTTGATAAACGTGCATTCCATGTGTGGTTTTTAAAAATGTAATCACATTTTTTATTGCGGTAAAATATAATAACATAAAATTGACCATGCCAACCATGTTTAAGTGCACAGTGCAGTGGCACTAAGTACATTTACATTGTTGTGCAACCGTTACCACCATCCCCGATAGAACTCTTTCATCTTGCTTCAGTGAAAATCTGTGCCCATTAAACACTAACTCACCACTTACTGCCCCCCTCGCCCTTGGCAACTACTGTTCTACTTTCTGTCTCTAAGGCTCTGACTACTATAGATACCTCATATAAGTGGAATCATACAGTGTTTGTCCTTTTGTGTCTGGCTTATTATGCGAGGACTTAGCATAATGTCCTCAAGGTTCATCCGTGTTGTATCATGTGCCAGAATTTCCTTCCTTTTTCAGGCCGAATAATATTCCTTTGTACGTATATGTGCTACATTTTGTTCATCCATCTATTCATTCATTGATAGACATTTGGGTTGTTTCTGGGTTTTGTGTTTTTATATATGTTTTTTTAAAAATAAACATCTTTAGAGACAGTTCAGTAAAGCAGTGGAAACAGGGAAGTCTCCATTTAACCCCTGAGGATCTGGCTCACCTGCACCTTCTCATCAGCATTAAGCAGAGGGAGGCACGAGCAGGAGCCACCTGCACACTCAATGAGGAGCTGAACAGGGATCAATTACCTTTTTTTTTAGTTATTAGGATGCTGCTAGCTGAGAATCTGCCTTGCCTTGATTACCCCAATGTCTGGTGCCCAAGTCCCTTGAGTCCTCCAGCAGGAACTCCTGTGGCATCACTCAGGAGTCTAGTCTAAGAAGCTAGCTCTGACCAGGGCAGTGGTGGCCAGGCTTCTGTGAGTGGGCCAGCCTCCCCCGGGTAGGACACAAGCCATACCAGCAGGGCTGTATGTGAACTGTGGAAAATAGAGAGCAAAGTGGGTAGGTGGGTGTAGGGTGCTGTTTTCCTGGAAATATCTACCTAATCTCGCTCTTCTCTTACCTCTAG
Seq C2 exon
GTGTTTGTAAATTTTGCTAAACAGCAGACTGAAAGTCATGACCTCCCTCTGCACCCTCGAGCTGCTGGAGCCAGTCGACAAGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691:ENST00000370225:48
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=0.586
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAGATGGCTATATCGTCACA
R:
CTGGGCTTGTCGACTGGCT
Band lengths:
334-1999
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