HsaINT0049637 @ hg38
Intron Retention
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7797680-7798324:+
Coord C1 exon
chr17:7797680-7797829
Coord A exon
chr17:7797830-7798156
Coord C2 exon
chr17:7798157-7798324
Length
327 bp
Sequences
Splice sites
5' ss Seq
ACAGTGAGC
5' ss Score
4.69
3' ss Seq
CACACCCACCCCACCCCCAGTCA
3' ss Score
6.09
Exon sequences
Seq C1 exon
GGGATTTCCTGAAGGAGCCCAAGGTGTATGAAGACCTCACGGATCTGACAGTGCTGAAGACAGTCATGGAGACAGCTCTAAATGAGTATAACCTGTCACCCTCTGTCGTGCCCATGCAGCTAGTGCTCTTCCGAGAGGCTATTGAACACA
Seq A exon
GTGAGCACCTGCCACGCCTATCCCCTTCCCCATCATCTCAGTGATGGGGTATGTCTAAGGAAATAGGGGTCCCTTCCCAGGTCTCCCAAATCAAGTTCCAGAAGCTGCCTTTCTCCCTGGCCCCAGATGCCCTGTGGCAGTGTGTGTTTAACAGAGAAGGTGGAGGTTAAAAGTTGAATTGCCTCCTGGGCCTTGGGCACCAACTTCTTCTCATACCTCTTGGTTCCTCTGCTTCAGTTTCAGGGGCCCCAATCCCTAGCCTAGGGCCTGGAGGTCCCCTGAGTTTGCTCAGCCAACTCATTACCCTCACACCCACCCCACCCCCAG
Seq C2 exon
TCACACGGATCGTGCGGGTCATTGGACAGCCTCGGGGCAACATGCTCCTGGTGGGTATCGGGGGCAGCGGACGCCAGAGTCTGGCCCGCCTGGCTTCATCCATCTGCGACTACACCACCTTCCAGATCGAGGTCACCAAACATTATCGGAAGCAGGAGTTCCGAGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914:ENST00000572933:53
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=0.000
Domain overlap (PFAM):
C1:
PF127802=AAA_8=PU(7.7=41.2)
A:
NA
C2:
PF127802=AAA_8=FE(20.7=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGATTTCCTGAAGGAGCCCA
R:
CATCTCGGAACTCCTGCTTCC
Band lengths:
318-645
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