HsaINT0049864 @ hg19
Intron Retention
Gene
ENSG00000115423 | DNAH6
Description
dynein, axonemal, heavy chain 6 [Source:HGNC Symbol;Acc:2951]
Coordinates
chr2:84937411-84940383:+
Coord C1 exon
chr2:84937411-84937536
Coord A exon
chr2:84937537-84940218
Coord C2 exon
chr2:84940219-84940383
Length
2682 bp
Sequences
Splice sites
5' ss Seq
GAGGTTTGA
5' ss Score
3.11
3' ss Seq
GTTTTGTTTTAATTTCTAAGCTT
3' ss Score
5.76
Exon sequences
Seq C1 exon
GCAAACCGTTGGATAAGGAACAAGGAAAGCAAAAGTGGTTTAAAGATCATTAAGCTTACAGATAGTAATTTCTTACGAATACTCGAGAATTCAATCCGACTTGGTTTACCTGTCTTACTGGAAGAG
Seq A exon
GTTTGATTTTCACTTCCTTTTCTCATGTCAGTTCCCAACTTTCAAATCATATCTGGAATCCTATATAGGCCACATCCCCATCATGCTAAAGACACCAGTCAACTCCATTTTCAAATTGGTCAAACCAGTTCCTCTTCTCCTTAAACAATACATTATCACATTGCAAGAGGGGTGGGAGGGAGGACCTGTTGACTTTCAGACATTGTTTTAGTGTTAAGAGGGCTGGCCTCTGTTTCCTGACACTGCTGTTTCACAGGCCTCATTATGGCCCTTGATGGTGAGCTGCGCTGAAAATTCACAACAGTAGTGCAGTCAGGATTATGTACATACAATAATGATGCGAAGCCAGTAAAATATTCTAGTGGATACAAACATTATTTTTTACTTGGGCATAAGTCAGAATTGGATTAAGTGAATTAGATAAGAATTAACTTTTGTTAAAAAAAAAAAAAGAAGAAGAGGAAGAAGAAGGGAGGGCAGTGTTGTTTGTTGAGTCTAGGTGCTCCATTTCTTTGGCTATCATTGCAAGAATGGATGTTATTTAAAATTGTTCCCTCATTCAAACATTATTTGGGAACCAGTGGCAAAAAATATAGATGTGGTTTCTGTTCTCAATAGCTTACAATTGAGGTGGGGACAGAGACAGTAAACAGAGAAAGAAAGAGAGAAGAAATGAGAGAGGGAGGGGAAGAAACTTGTTATCAGAGGTTTGAAAGGGTAAAGAGGGGGCTGGGATAGTCACCAATGGATAGGCCACCAAGGCTGGTCTGACTTAGATATGTGGATAAAGGGAGTAATTTAAGCTGTGACCTATGTGATGAGCTCAGCCATATGCCAGGCTTAGAGAGAAGGGCTTCCCCAGCAAAGGGAACAGCACAAAGGCCCTGGGCACAAAAGAGATTGGTTAATGATCATGGTTTATTTTCCTATAAGTAATAAAAGAACAAGCGAGCCAAAACATGGACTGTGAGTTGAGTCTCAGTTTAACCGTGCCTAGAAGTATCACTGCGTCATCAGAAAGAAAGAAAGCTCAAAAAGACCATGGACCAGGGCAGTTTAGCTGCAGCACCTGCATGATGACTAGGAATTGTAATTAATATGTTAGCATTAACTAATATTTATTGCATGTTCACTCCATGCCAGACTCTGTTCTCAGTATTTTATGTATTTTAACTCATTAATCCTCACTGCCCCATCACAAGATAGTTACTATTGTTATTCCATTTTGTCAATGAGGAAACTGAGGCATGGAAGGGTTGCATAAACTATCCAAGCAACCTTGCCTGCCTAGGAAATCCACAGGTTACACTATTCCCCACTCAAGCCACAAAGAGCACAAGGGACCTCAGTGTGACCAAGCTTGGCCTTGACCAACACAAGGGTGATTCTGTAATGGATCCCAGTCACAGGAGAGAGTGAAGTCTCCAGAAAACTTTGGCACAGGTATTTTAGCTCCAAACTGGACTCCTGAACTCAGGTTTACTTTATGACACGAGAGATCCTGAGGGACTTTCCTCTTTCATGGCAGCAGACAAAAGGTTTTCTGTGATGTTCTACCTCTGGACAGAAGAGTGTTTTAACTGTAGTAGAGTGCTCTTGGGAGAGGGGGTGGGCCCTTGTCAGGGCCCCAGCCAGGAACAGGACACTCTGACCAGTCCTCCCCAACTCTCTGTGTCTTGGGGTCATCAGCATTATACACCTAGCTGCTTTCTACATTTGCTAGGGTGGTGTATTCAAACTTTGTCTCCACCCATTCATGAGTATGAAATCAGTTTAGACCATCTCAATCAACATTTTCAAATGAAATAAAATTTTTTAAACTCAAAATTATATTGAATAAAGGTAAATTTTATCTCATAAACTTTTGTTTGAAGAATTTACATGTGTGGGTACCATGTCACAATGTGGAACAGATTTGTTAAAATGGATGACAGTCAAATTTTGAAAGCCCCTGGGCCATGGGACCCCCATCACATACGTCCTGACATAAAGATGTTTCTGATGGGATCCCTGGGCAATGTCTCCATGCCCACGTTCCTACCAACAGTCAGATTTGCTTTGAGGAAAAAGGCATAACTATCATGTAGAATAGGGGTTCATAGACTTTTTCTGTAGAGAGCCAGGGAGTAAATGTTTCAGTTTTTGCAGGCCTCATGCAGTCTCTGTGCATATTCTTCCTTGTTTTGTTTTGGTTTAGTGTTTTTTGTTTGTATGTTTTTACAACCCTTAAAAAGGTAAAAGCCATTCGTAGTTCAAGAGTCATAGAAAAATGGCTACATGGGGCCAGATTTGGCCTATAGGCTGTCATTTGCCAATCCCTGGTTTTAAACAACCATGAAAATGAACAGATCTTCATTTGTGTGGAGCCTGTTGAAGTCCAACCCACAATGACTTAATCTACCCAGTTTCTCTCTTCTTCTCATGGAAATGAATAGTGTGTAAGATTGATCTAAATAGATATATTGCCTTCAGATGCTCTTATTTCCTTAGACTGCTAATAAAATGCTTACTGGAAAATAGGTACTGTTAGAGGTAGTGTGAGGATGTTAATAAATATCCATCAGATCACTGGAAAATTATTCATTCACAGTACATTTTGAGGCCTAAGGAATTTTGTGAAGTTCATGCTATCCATTTTAATTGCTTCTTTTTGTATTGTCCTGTTTTGTTTTAATTTCTAAG
Seq C2 exon
CTTAAGGAAACCTTGGATCCAGCTCTAGAACCCATTCTTTTGAAACAAATTTTTATCAGTGGTGGCCGACTACTCATCCGTCTTGGAGACTCAGACATTGATTATGACAAAAACTTTAGGTTCTATATGACAACCAAAATGCCAAATCCCCACTATCTGCCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115423-DNAH6:NM_001370:56
Average complexity
IR-S
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:
PF127812=AAA_9=FE(17.7=100)
A:
NA
C2:
PF127812=AAA_9=FE(23.4=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)