HsaINT1011445 @ hg38
Intron Retention
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7792657-7793205:+
Coord C1 exon
chr17:7792657-7792855
Coord A exon
chr17:7792856-7792980
Coord C2 exon
chr17:7792981-7793205
Length
125 bp
Sequences
Splice sites
5' ss Seq
CAGGTGTGT
5' ss Score
6.99
3' ss Seq
ATTCGGTACCTTTTCACCAGACC
3' ss Score
6.39
Exon sequences
Seq C1 exon
CGCCCCCTTCTATAAGATCATGGTGCCCACCGTCGACACTGTTCGCTACAACTACCTGGTGAGCAGCTTGGTGGCCAACCAGAATCCCATTCTGCTGGTGGGTCCCGTGGGGACTGGGAAGACCTCCATCGCCCAGAGCGTTCTGCAGTCCCTGCCCTCCAGCCAGTGGTCGGTGCTCGTTGTCAACATGTCCGCACAG
Seq A exon
GTGTGTCGGGGATCCAGGGGCCAGGCTGCCGGCTCCCTTGGGATCCAAGTGCCTGCCTGACCCTCCTCTCTAAGCCCGTATTTCTCTCAGGGGACCCACACATTCATTCGGTACCTTTTCACCAG
Seq C2 exon
ACCACATCCAATAACGTGCAGAGCATCATTGAGAGCAGGGTTGAGAAGCGAACCAAGGGTGTCTACGTGCCATTCGGGGGCAAAAGCATGATCACCTTTATGGATGACCTAAATATGCCCGCTAAGGACATGTTTGGGTCCCAGCCACCCCTGGAGCTGATCCGCCTCTGGATTGACTATGGCTTCTGGTATGACCGTACGAAGCAGACCATCAAGTACATTCGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914:ENST00000572933:47
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=0.040
Domain overlap (PFAM):
C1:
PF127752=AAA_7=FE(24.4=100)
A:
NA
C2:
PF127752=AAA_7=FE(27.3=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGCTACAACTACCTGGTGAGC
R:
ATCATGCTTTTGCCCCCGAAT
Band lengths:
248-373
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains