HsaINT0049860 @ hg38
Intron Retention
Gene
ENSG00000115423 | DNAH6
Description
dynein axonemal heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:2951]
Coordinates
chr2:84705486-84707019:+
Coord C1 exon
chr2:84705486-84705747
Coord A exon
chr2:84705748-84706895
Coord C2 exon
chr2:84706896-84707019
Length
1148 bp
Sequences
Splice sites
5' ss Seq
CAGGTACAT
5' ss Score
7.79
3' ss Seq
CAGTTGCTTGATTTTATTAGGCT
3' ss Score
3.13
Exon sequences
Seq C1 exon
GCCTGATTGGCCATCAGCAAAGCAACTTCTTGGTGACTCTAACTTTCTAAAAAGGCTTTTAGAATATGATAAGGAGAACATAAAGCCTCAGATATTGGCAAAGCTTCAAAAGTATATTAATAATCCTGATTTTGTGCCTGAAAAAGTGGAGAAAGTGTCCAAAGCATGTAAATCTATGTGCATGTGGGTAAGAGCTATGGATTTGTACTCTCGAGTGGTCAAGGTCGTCGAACCAAAAAGACAAAAGCTCCGCGCCGCACAG
Seq A exon
GTACATTTTCTGTATTGTGATATTTTATAGAATTGAAGGCCATGATCGCCAGTCATTTCAAGTTCTCTGTATAATGTTACTGTGGTCCTACGCAATATAGACAGTGACAAAACTCTTGGAAATTAGCTTTTGTTTTAAACAAGAGCTGGCAATTTTTTTTCAGAAATTGCCTCTGAAATCAGCCTTCTTTCAGCATAAGAGGAACATGAGTTCCTCAGTATATTCATCTGAAAAAAAAGGAATTAATCTCTTTCTTTAAGGTACTTTTTAGCTCAACCATCTGATGGTCTGTATTTCCGTTTGCTAAATACTTCCGTGCTTGATGGTGTCATCTGAGGTTTTAGAACCAGCTTAACCCTGTCATTGGATGTGAGGCCCTTCATCTTCCCAAGAAGAAAAAAGAATGATCATTTAGTGGAGCAGGTTACTGAAAGAACTGTGGCTATAGAGCAGGGGTTGGCAAACTTTTTCCATGAAGACCCAGAGAATAAATATTTTATGCATTGCAGGCTATATGGTCTCTGCAGCGAGCACTCAGCTCTGCTGTTGCAGCACAGAAACAGTCATTGACAATACATAGATGAATAAGCATGACTATGTTCCAATATAACTTTATTTATTGACTCTGGAGTTCAAATTTCACACAGTTATCACATTTCATGAAATATTATTCTTTTAAAGATTTTTTTCTAATTATTTAAAAATGTAAAAACCATTCTTAGCTTGCATACTGTACAAAAACAGGCAGCAGGCTAGATTTGACCTGCAGGCCATAGTGTGCCGACCTCTGATGTGGAGAACTAGTTAGGAAATATTAGTTTCCACTATGGCATGAATATTTAATTTGTTGCATCATTTAAAATTAATAATCCATTATGATACCTAATTCATCCCAAATGCTCAGTACACCTGTTTCTCTATTATGATTTATTTTGTTGGGCTTTATTATTGATTTTGTTTTGTTTCATTTACTTCTGTTCTTGTATTTTACTCTAATTTATATTTGTTTTAACTTTATGTATCACATCAAAGTCTTTTTGGACATGAAAAGAGGAACATATATAAAATTTTTTTTAGATCTGTATTATTAATGGGCAAATTCAGCCTTTTTTTGGCCCTGTTCTTAAACAGTTGCTTGATTTTATTAG
Seq C2 exon
GCTGAACTTGACATTACCATGGCTACCCTGAGAGAAAAGCAAGCATTACTAAGACAAGTAGAAGATCAAATACAGGCCTTACAAGATGAATATGACAAAGGTGTAAATGAAAAAGAAAGCCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115423:ENST00000237449:51
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(26.0=100)
A:
NA
C2:
PF127772=MT=FE(12.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCCATCAGCAAAGCAACTTC
R:
TGTCATATTCATCTTGTAAGGCCTGT
Band lengths:
351-1499
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