HsaINT0049672 @ hg38
Intron Retention
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7833071-7833744:+
Coord C1 exon
chr17:7833071-7833221
Coord A exon
chr17:7833222-7833378
Coord C2 exon
chr17:7833379-7833744
Length
157 bp
Sequences
Splice sites
5' ss Seq
AGGGTGGGA
5' ss Score
2.36
3' ss Seq
TCTCCTCTCCTTTCCCCCAGGCA
3' ss Score
13.02
Exon sequences
Seq C1 exon
GATGGTGTCTGGGTCCGGGGCCTGTACCTGGAAGGTGCTGGCTGGGACCGGAAGAACTCCTGCTTGGTGGAGGCAGAGCCCATGCAGCTTGTCTGCCTCATGCCCACGATCCACTTCCGGCCTGCAGAGAGCCGCAAGAAGAGCGCCAAGG
Seq A exon
GTGGGACAGCTCCCCAGGCAGGACCTGCCTGCCCCGTCCCTAGTTTGGAACTTAACCCATTCTCTGCTCCAGCCCATCCCACACCCGCTCCTGCCCTGCTCCTGCCCTGCTCTCCCGGAGGCTCCAGGGGTCTGACTTCTCCTCTCCTTTCCCCCAG
Seq C2 exon
GCATGTACTCCTGCCCCTGCTATTACTATCCCAACCGGGCAGGCAGCTCAGACCGAGCCTCCTTTGTCATCGGCATTGACCTGCGGTCTGGGGCCATGACACCTGATCATTGGATCAAGAGGGGCACTGCTCTACTCATGAGCCTGGACAGCTGAGACCTCCTCCTCTTCTCCGCTTGAGAGAGAGGGTCAGGGACTCCAGGAGCTAAGACAGATGTTGCACCTAGGACTGAGGCCGGACCTCACTCAGACTTTGACCTTGGCCGAATTTGTGTGATGTGGCCCTGGAGATACCTAGTTGTGTTAGCCATAAAAGTGAAAGAGTTGTATTGGAGCTCAGTGCTGTAAAACACCCGCGACAACAAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914:ENST00000572933:85
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=FE(7.1=100)
A:
NA
C2:
PF0302810=Dynein_heavy=PD(6.7=90.4)
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:
CTCATGCCCACGATCCACTTC
R:
AGTCCCTGACCCTCTCTCTCA
Band lengths:
252-409
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