HsaINT0000759 @ hg19
Intron Retention
Gene
ENSG00000154262 | ABCA6
Description
ATP-binding cassette, sub-family A (ABC1), member 6 [Source:HGNC Symbol;Acc:36]
Coordinates
chr17:67092769-67094168:-
Coord C1 exon
chr17:67094061-67094168
Coord A exon
chr17:67092943-67094060
Coord C2 exon
chr17:67092769-67092942
Length
1118 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
3' ss Seq
TTCTTTTTTTTTTTAATCAGAAA
3' ss Score
8.32
Exon sequences
Seq C1 exon
AGCCACATAGGACTCTGGACTGGGTTGCCGGATGGTTCCTTTTTCTTATTTTTGGTTCTATGTAGCATTTCTCCTTATATCACCATGGGCAGCATCAGTGATTACAAG
Seq A exon
GTAAGAAAAAGCAGGGAAAAGAAGAAATTTCAGGAATTTCAATATCTGTATTTTGAATGCTATGTGTTCAAAATGTTTTCTTCTGACAAAAACATTTGAATGTATGTTTAATTTAGATATTGTAGCTAAACCTTATTCTTGGCAAGTCAGATAATTTACTTCTAAAAACTCAAAATGCTTTTTATTCCAAAGTCACCTGAAAAGTACAGTGATTTTTCAGAGACTCCAATTAGTCTAAACCTTCAAAGGGAAATATTATAAATCTTTTGACCACATTATTTCCCAGCCACAAGAAGGAAATCATTGATGTTGAAATCAAAGGCCAAATTTAAGACTTGAATTCCTTTTCCACTCTGGAAATTGCAATTTTATGTTATATTTGTATTCGATTATGCCCATTATTCAGACAAAGCAGTTAAATCTATCAACGTTCACCATCCTGAGCCAGAAACTCTCCAAGATGTTTAGGTAAAGGTAAATGTATTATGTCCTCCAGGTCACAAAATAATACTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGTGCAAAATCGGTTCACTGCAAACTCCGCCTCCCGGGTTCAAGCAGTTCTTCTGCCTCAGCCTCCTGAGTAGATGGGATTACAGGCTTGCACCACCATGCCCAACTACTTTTTGTGTTTTTAGTCAAAATGGGCTTTCACCATGTTAGCCAGGATGGCCTCAATCCCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTGGCCAATACTTATTTTTATAGAGTTTAATGCCTTGAACATTATGAGGTCCACTTTTCATTATTCATGAGCTAAAGTTGTGTTATGAGTCAGGCCTATCACAGTATACATTTTATTTTTGATAGACACCTTGTAAACCATGGAACTGGCTCTATAAGCCTCATGTTACTAAGCAGTATATGCATAATTTTTTTTAATATTAGAAGATTAGATTATATTTATCTTAAAAATTCTTCCAATGTGTTTGTGTTTATTTTAGATTTGCATTTTAATTGAATCTATATACATTTCTTTCTTTCTTTTTTTTTTTAATCAG
Seq C2 exon
AAAAATGCTAAGTCCCAGCTATGGATTTCAGGCCTCTACACTTCTGCTTACTGGTGTGGGCAGGCACTAGTGGACGTCAGCTTCTTCATTTTAATTCTCCTTTTAATGTATTTAATTTTCTACATAGAAAACATGCAGTACCTTCTTATTACAAGCCAAATTGTGTTTGCTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262-ABCA6:NM_080284:23
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=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(9.7=100)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(15.8=100)
Main Inclusion Isoform:
NA
Other Inclusion 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:
AGCCACATAGGACTCTGGACT
R:
AGCAAACACAATTTGGCTTGT
Band lengths:
279-1397
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)