HsaINT0049624 @ hg19
Intron Retention
Gene
ENSG00000183914 | DNAH2
Description
dynein, axonemal, heavy chain 2 [Source:HGNC Symbol;Acc:2948]
Coordinates
chr17:7689888-7690351:+
Coord C1 exon
chr17:7689888-7690005
Coord A exon
chr17:7690006-7690214
Coord C2 exon
chr17:7690215-7690351
Length
209 bp
Sequences
Splice sites
5' ss Seq
CAGGTATCC
5' ss Score
7.91
3' ss Seq
ATCACCCACCATCTACTCAGATG
3' ss Score
5.84
Exon sequences
Seq C1 exon
GAGTTCCCTTTGAACCCCAAGGCATTGTCCCTAGGGGAACTGTATGGGGAATATGACCTCAGCACCAATGAATGGACAGATGGCATCTTGTCCAGTGTCATGCGGACGGCATGTGCAG
Seq A exon
GTATCCAGAGGATCGTGGGGTGTGGAGAGCAGACGCCTGAGTCTCCTAAGGGGGCAGGGAGTCTGGGGATAGGAAGTTCCAAGTTGGGAGAGAAATGCCTGGGGAATGCTGAAGTACAAGGGAGTGTAGGCTTGTGTCTCCGAGGAGCGTGAGCGGAGGGTGCAAGGTGAGCGGCTCCCCGGTTTCCTCATCACCCACCATCTACTCAG
Seq C2 exon
ATGAGAAACCCGACGAGAAGTGGATCCTGTTCGATGGCCCCGTGGACACACTGTGGATCGAGAACATGAACTCCGTCATGGACGATAACAAGGTGTTGACCCTCATCAACGGCGAGCGCATCGCGATGCCCGAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914-DNAH2:NM_020877:40
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:
PF077289=AAA_5=FE(27.1=100)
A:
NA
C2:
PF077289=AAA_5=FE(31.2=100)
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:
GTTCCCTTTGAACCCCAAGGC
R:
GATGCGCTCGCCGTTGAT
Band lengths:
238-447
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)