HsaINT0000701 @ hg19
Intron Retention
Gene
ENSG00000198691 | ABCA4
Description
ATP-binding cassette, sub-family A (ABC1), member 4 [Source:HGNC Symbol;Acc:34]
Coordinates
chr1:94461665-94463666:-
Coord C1 exon
chr1:94463417-94463666
Coord A exon
chr1:94461752-94463416
Coord C2 exon
chr1:94461665-94461751
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-ABCA4:NM_000350:48
Average complexity
IR-S
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)