HsaINT0049649 @ hg38
Intron Retention
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7816571-7817415:+
Coord C1 exon
chr17:7816571-7816735
Coord A exon
chr17:7816736-7817289
Coord C2 exon
chr17:7817290-7817415
Length
554 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
3' ss Seq
CCCTCCCTCCTGTCCGCCAGGGC
3' ss Score
9.54
Exon sequences
Seq C1 exon
GTAGCTGAGAAACTGGAGATGCTAAAGAAACAGTATGATGAGAAGCTGGCACAGAAGGAGGAGCTTCGCAAGAAGTCTGAAGAGATGGAGCTGAAGCTGGAGCGAGCTGGGATGCTCGTGTCGGGGTTGGCTGGCGAGAAGGCCAGATGGGAGGAGACAGTCCAG
Seq A exon
GTGAGATCAGCTGTACTACCTGGTGTCCTTTCACTCTGCTCGCCACTTCCGAGAGACCCATCCCTTTTAGCTTGAGGAGCAGTCAGGGAAAACGGGGACACCTGGGTATAGGGAACTCTAAGAACTGAGGCGTGGGAGCTCTTCCCCTCCCCCTGCACACCTTTGGTGAGAGCAATGGAAGGAAAGGCTTTTTGCATTATTAGGGATCTGCTTCAGTGTTTGGGCAGGGCTGGGAAGCACACACAAGGACTCTTGATGTAGCCCAACAACCAGACAGAAAACAGACACAGCACATCTTGCTTCTGCCCCTCAGTGAGCTCCTGGCTTCACAGAAAGGTTAGGCCTTATCACCAGAATGTAAACATTGCCATTAGAGATAGAGAACTCAAAAGTAATTAGAACCAGGCTAGAGTTGTCAGGACACACAGGTTTAGGGGAGGGAAAGATCCTCTTTGAACCTGACAGTGTCCAGAAGAGGGTGCCTTCAAAAGCATTCCAAGTGTCTCCCAGAGTGCTGGGGCCCAGGCAGGCTTACCCTCCCTCCTGTCCGCCAG
Seq C2 exon
GGCCTGGAGGAGGACCTGGGCTACCTGGTGGGGGACTGTCTCCTGGCAGCTGCCTTCCTGTCCTACATGGGACCCTTCCTGACCAACTACCGGGATGAGATTGTCAACCAAATCTGGATCGGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914:ENST00000572933:64
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:
PF127772=MT=FE(16.0=100)
A:
NA
C2:
PF127772=MT=FE(12.2=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:
AGCTGAGAAACTGGAGATGCT
R:
CCCGATCCAGATTTGGTTGACA
Band lengths:
286-840
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