HsaINT0049639 @ hg38
Intron Retention
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7798558-7799242:+
Coord C1 exon
chr17:7798558-7798718
Coord A exon
chr17:7798719-7799102
Coord C2 exon
chr17:7799103-7799242
Length
384 bp
Sequences
Splice sites
5' ss Seq
GAGGTAGGA
5' ss Score
8.24
3' ss Seq
CCTGGGTGGCTTCTGTCCAGATC
3' ss Score
5.22
Exon sequences
Seq C1 exon
ATATCAAGCGTCTGTATCGCCAGGCTGGGGTGGAGCTCAAGACCACGTCCTTCATTTTTGTGGACACCCAAATAGCTGATGAGTCCTTCCTAGAGGACATCAACAACATCCTCAGCTCAGGCGAGGTGCCCAATCTCTACAAGCCTGATGAATTTGAAGAG
Seq A exon
GTAGGATTCCTTCCACACCCTTGACCAGTCAGTTCTTTGGCCTGCCTAGCTGACCCCAGAAGGACCACAGCTCCCAGAATGTGCCACTGGCACACCCCCACTGCCACACCCCCACTGCCCACCTCAGCCCTGTAAGGTGGAAGGTCCCCTCCAGGGACCCTGGGCAGAGCTGCTTTAAAACCCACGCTTCAGAGCCAGGCACAGTGGCTTGAGCTTGTAGTTCCAGCTACTCGGGGGTGGGGGGTGCTGAAGTGGGAGGATGGTTTGAGGCCAGGAGTTCAAGTCCAGCCTGGGAAACACTTCGTCAGCCCCACCTGACCCGCTGCCCCCGCTGATTCTGCTATGGACACGCCAGCCCTCTGACCCTGGGTGGCTTCTGTCCAG
Seq C2 exon
ATCCAGTCGCATATCATAGACCAGGCCCGGGTGGAGCAGGTGCCTGAGTCATCGGACAGCCTCTTCGCCTACCTCATTGAACGCGTGCAGAACAACCTGCACATCGTGCTCTGCCTCAGCCCCATGGGGGATCCCTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914:ENST00000572933:55
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=FE(19.6=100)
A:
NA
C2:
PF127802=AAA_8=FE(17.0=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:
CGTCTGTATCGCCAGGCTG
R:
CCATGGGGCTGAGGCAGA
Band lengths:
280-664
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