HsaINT0049848 @ hg38
Intron Retention
Gene
ENSG00000115423 | DNAH6
Description
dynein axonemal heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:2951]
Coordinates
chr2:84677005-84681528:+
Coord C1 exon
chr2:84677005-84677136
Coord A exon
chr2:84677137-84681356
Coord C2 exon
chr2:84681357-84681528
Length
4220 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
TATTATGTTTCTGGTTCTAGGCC
3' ss Score
9.83
Exon sequences
Seq C1 exon
GATGTAACAATCATATCGGCATGTGCACCTCCAGGCGGTGGCCGCAACCCTGTGACTCCCCGCTTCATCAGACACTTCAGCATGCTGTGCCTCCCAATGCCCTCAGAGCACAGTCTGAAACAGATTTTTCAG
Seq A exon
GTGAGTGTCGATTTTAACTTAGGCAACAGGAGGAAAAGAAAGCATATTTGTTCCAAGGCTCCCACAATCAAAGTGGTGTCTTGTGTTTCTAAGGAGTCCATCTATCCGTCTCTTTCCTGAGCAGGAAGCAGGTAAATATGGACTCCTGGAGAGTAGCTGGCAGGCATTTGCATCACTGCCTTCTGTATCTGTTGGTCTCAGAGAGTTCTAGAAATGCAGAAAGATTGTGCAGACAAAACCCCTACCTTTAGAGAAGGCTGCATCTTAGGTCCCTGCCACTTAGCACTCCACACACAGTTCTTGGCAGATCTCATCACTACCCAGCCCCTGCCTTTGTGCTCATCTTATCCCTAACCACCAGGTCTGCGTGTCCACTTGCCACCAAACTTGGCACCTGATATGCCAGAGAGCTCAAGCTCAACACACCTAAAACAGAACTCATCTCCTTGGCCACTCTCGCTAAGAATGATAACCTATCTTTTGTCCATCTGTACTCACTTCCCTAATAGGCTACTTCCCCATCCTTTATATGGGAAAAATAATAACACCTGCCCTACAAGTGCTCAACAGATTGAGAGGCATTATTTTGAGTAGAACAGTAAGAGAATATGAAGCAGCATGACTAAAGCCCCGCATAACCAACCTGCAAAGGTTGCTTAGAGAAGAGAGATTGTGAGCTGAGTCTTGGGGATGCTGGGAATTGACAGGGAGGAACAGATCTTAGGAACAGGAAGTGCTGGGTGAACGCAACTGCAGAGGCAGGAAATGGTAAGGTGGGCACAAAGGTAGAATAAGACAGTTCAGGTGACTGGCCTGGAGAAGCTGATGACAGTGACGTGGACAGTGATGCCCAAGGATGTGGCAATTAAGTGAACCTCCACATTCACCAGCATCAACTTCTTCCAGTAGAAGCCCTCTCTCAAGAGGGACAGACCCCGCATGTATACAACCTTCAGTACATGGAAAGGAATTTTCTGTTTGTATTGAAATAGCTTATTTCTGTGGGAAATTATTTTTAATAAATTGAAGTAGTTCCAATAAGCTGTTTAGGAGCTAATGCCAAAATGGTATATAAAAACTGCCACATTTTGAAAAACTTTCGGAGAGTGCTTTAGAAAATAGGAAAAGATGGGAGCTTCACTCCTATAATTAAGCACCAGAGTATAAAACAAGACATAACAGCAACCACCAAAGCCATTAGAAGGGTTGTCTAAGGCCTGCACACTTTTTTGAGAACTTTTATATTTATATTTTGAAGTTTGAAGTGAGTGATTCCCAACCACACCACAGATACACTGTGATGTGGTGAGTGGTGAGGGGTGTCTCAAGAAACTTATGCCTGGTTAGAAGAGACTGAATTTGCAATTTATTTCATTTTTTATTAAGTTAAAGCAAATTCAGGTTTATGACTACAAAAACATCGTTCTTCATCATTCCAAAATGGAATGATTTCCATTTTGTGGGTGGGAAGAATACAGTGAAGCCTGGGCCACTGGGAAAGACATGGTCCCCAACTCTCAACCTCCTGTGGGATTATCATGTCCATGGAAATGTGTCACCCATGGGAACATCATCCAGCAAGCACATCATAGCTAAAAACTGGCTGTGATAAGGCTGCTTCTTCCCACTGTAACTTTACAGGTTTACATTTAAAACCCACACTAGCTATAAGGGGAAATAGAAATGATATGTGGCAAAACTGAGAGATTCTGGGGGCTACCAGGTTGGACTGAATTCAGGTGGGAAAGAATATTGCTCTCATTACAACGGACAGGGTATTTTGCCTGTAGGAAAAAAGAACTTGCTCTAGGCCCATGGATCTCAAACTTCATTTTTCATCACATCCCACCTTAGCAGGACCCAAGAATTCATCACCCGTCTGTCCTGTCCTTCATTACTGTTTGGAGGAAAAAGAACTTGGATATAATCAAGAATTGAAGAAGAGCAAAATCAATAAAGTAAATTTATTTTTAGCAACATATATAAATAGATTTATTTCTACTGTATAAAAGAAGCCTATGAGTCTAAATAGTACATGTATATTATATATAATGTTTTCAATAACCTATTAGTGTTAACACGATTAGTCCTATCATTGTACTTTCTTTGATAGTCTGTTGCAAATTAGTTAAATAGTGCATATATGCAGGGAGCGCACCACTAATGCCCAGACACGATTTGCACCGTTGGAATATGTACATTATAAGTGACTCTTTCTCAGACCATAGTTCATACAAACCTGAATGTTTACTTACTGGAAATTTATGTGCCAAAATATGCATCACTATACATTCTAAGGGTAAACCGAACAGCACACAACCAGGTAAATTAAATTTAATGAAATTTCTAGTTAGAAAGCTATAACGCAGTAACTGAAAACCGTGATCAGCTCCATAAACTAGTGATAATGTGCTTATGCCAAAGAATCCTCCCAAAACTAAGAAACCTGGCTGCATCTTGCGTGCATGTTCTTAGTAAGAGTTTTGCAAAGTTGCCAAACAGATCATGTAAGCCAGATCCTTAAGTAGAATACTAGGCTGTGGTCCTCAGTAAATTCTATAATGATACGCTAATTTTAATGTATGGATACCAGTTTAGTAGCCTTTAATTCATTCATTAAACAAATATTTGTTGAGCACCTTCCATACGCCTGATATTGGTGTATCATCCCTGTCCTCATGGATCTTCTTCCATGGACACAGATAATGAAGAGATGAATGAGATATCTAGATATAGACACACAGTTACTCATGTATATGTTAGAAACTATTTGTATTTGTGTCATGGAGAACAGAAGGCTGGAGCTTTTTACATACATATAACATATATATAAATAAAATTATCAGCTTGTCTATTCTCCATCATACACATACAAATGGACAGATTTTCATCAAATTTAAAGATTGGGTTTGAGATGGTCCTACATAAAATACAGACCATGTGGAGTATGTTAAACTCATGTTGGGGTCCCAGGAGGGGATACCTAAAGAGGTCATCCTCACAAGTTAAAGCAAATGTTAAACAGGAGACCCACTGAAAACAAATACTCAGGTTTATTTCAAAAGATCTCATATATGACACCAAATCTGAAGTCACAACTTCAGATTAGACTAACTTGCAACCATTGATATGCATTCTCGTGGCTTCTCCCATTAGTTACTCCAGGGTTAATGGTAATAAGAATTTATCTATTTAAAAAACAATAATGATTTTTCCAAGCACTTGCGGGTCAAGGACTAGCTAATAAATACACATGTTCAAGTTGTGATGTTATGGATGAGAAGATCAAAGAGACTGATGGGAGGACTTGTTTTAGACTGAGTGGTCAGGAAAGGCCTCTCTGGAGAGACGGCATGTAACCTAAAACATGAAGGATGAAAGGGCACCTGCCAAGCAGAGAGGGCTGGGCACAGGAAGAGGGGAGCAGCAGTGCAGGGGCCTGAGGTGGGAAGGAGTGTGGGTGTTCAGACTAGTGTGGCGGGGACATGGGGAGCAATGGAAGGGAGGGGTGAAGTGAGGATGCTGGGGGAAGGGTGGACCAGCAGGGAGACCAGAATGGAAATGGAGAGGCCAGAGTGAAGGAGAGAGAGGAGAAGTCCAGATAAAAAAGAGTAGGGGCCAGGATGGGGTGATGTCCGGGGAAACAGAGGGAAGCAAACAGATCCAAGAAATGTGTTCAAGATTGATTTTGCAGGACAGAAAATGGGAGGTGTATAAAGAGACTTCCAAGCTCCTGATCTAAGCTTAGGAGGGAATGGCCAGCTACTGAGATGGGGAAGCTGAAGTGTGAGGGAGTTCACCATTGCAAGTAAGTCGCATTTAAAATATACATGAAGATGAAAGTCTATGAGAGTGGTGGTCATTCATCCATAAAAGTGAGAGAGAGGGTTTCTGTTCATTTCCAGGTGGGTTTGTGCCCTTCGTGATGACCCCTTGGACTCACCTCAAGCAGAGGTCTAAATTACTTGAGAGTGTGTTCATGTAAATTCACTAGTCAGATATGAATGCCACTCAGGCATCACAAAACAATCACAGAAGACAGGAGTGAGCGCATTCTCAAGAATGTTTTCTGAAATGAGCAGAAGAGCTTTGATACCAGAAGACTTTGTGTTGGAATTTGGCTTTCTATTATTAGAAAACGTTATCATCCGGAGTATTTAAAAGATAGATATTTGGTTTAAAATAAATCTAATCCTCTCATATTATGTTTCTGGTTCTAG
Seq C2 exon
GCCATCTTAAATGGTTTCCTGAGTGACTTTCCACCAGCTGTAAAGCAAACTGCATCAAGCATTGTAGAAGCCTCAGTTGAGATTTATAACAAAATGAGTGTTGACCTCCTGCCAACACCCGCCAAGTCCCATTATGTCTTTAACTTGAGGGACTTATCCAAATGTGTGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115423:ENST00000237449:40
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.003 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF127752=AAA_7=FE(15.8=100)
A:
NA
C2:
PF127752=AAA_7=FE(21.0=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:
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
- Autistic and control brains
- Pre-implantation embryo development