HsaINT0108908 @ hg19
Intron Retention
Gene
ENSG00000137474 | MYO7A
Description
myosin VIIA [Source:HGNC Symbol;Acc:7606]
Coordinates
chr11:76901742-76903323:+
Coord C1 exon
chr11:76901742-76901915
Coord A exon
chr11:76901916-76903095
Coord C2 exon
chr11:76903096-76903323
Length
1180 bp
Sequences
Splice sites
5' ss Seq
AAGGTATGG
5' ss Score
9.26
3' ss Seq
CCTCCCCTCTGTGCCCACAGGTG
3' ss Score
13.59
Exon sequences
Seq C1 exon
GCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAG
Seq A exon
GTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAG
Seq C2 exon
GTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137474-MYO7A:NM_000260:30
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=0.013
Domain overlap (PFAM):
C1:
PF0078412=MyTH4=PD(1.9=3.4),PF093795=FERM_N=PU(50.5=79.3)
A:
NA
C2:
PF093795=FERM_N=PD(47.3=56.6),PF0037313=FERM_M=PU(33.3=38.2)
Main Inclusion Isoform:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCACCAAGTCCAAGAAGCCAA
R:
GTAGATGAGGTTGGTGGCCAC
Band lengths:
353-1533
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
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)