HsaINT0049653 @ hg38
Intron Retention
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7817946-7818460:+
Coord C1 exon
chr17:7817946-7818096
Coord A exon
chr17:7818097-7818311
Coord C2 exon
chr17:7818312-7818460
Length
215 bp
Sequences
Splice sites
5' ss Seq
TCGGTCAGG
5' ss Score
3.77
3' ss Seq
TGACCCTTCCGTGGATGCAGGTG
3' ss Score
7.72
Exon sequences
Seq C1 exon
GGCCTGAAGATCATCGACCTGCAGATGAGCGATTACCTGCGAATCCTAGAACACGCCATTCACTTTGGATACCCGGTGCTACTTCAGAACGTGCAGGAATATCTGGACCCCACACTGAACCCCATGCTCAACAAATCTGTAGCCCGAATCG
Seq A exon
GTCAGGACAAGTCCCCAAGACCAGCCAAGTGGGATGCTAGGGAGGGAAGGGCTGGCTCTCTGACTGTGTCCTCTTCTTACCTGTCCCTCCATTCAGACAGCCCTGGCCTGGGGCCTTAGGACAGGCTGAGTCGCTGCCCCTGGATGCCGGTGGGGGATGGGTTAGCTGGTACCCATCACATGGAGTCCTTGCCCCTGACCCTTCCGTGGATGCAG
Seq C2 exon
GTGGTCGGCTGTTGATGCGCATTGGCGATAAGGAGGTGGAATATAATACCAATTTCCGTTTCTACATCACCACCAAGCTCTCCAACCCCCACTACAGCCCAGAGACCTCAGCCAAGACCACCATCGTCAACTTTGCTGTTAAAGAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914:ENST00000572933:68
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=0.020
Domain overlap (PFAM):
C1:
PF127812=AAA_9=FE(21.6=100)
A:
NA
C2:
PF127812=AAA_9=FE(21.2=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:
GGCCTGAAGATCATCGACCTG
R:
TAACAGCAAAGTTGACGATGGTG
Band lengths:
292-507
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