Special

HsaINT0049882 @ hg38

Intron Retention

Gene
Description
dynein axonemal heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:2951]
Coordinates
chr2:84808415-84812526:+
Coord C1 exon
chr2:84808415-84808542
Coord A exon
chr2:84808543-84812340
Coord C2 exon
chr2:84812341-84812526
Length
3798 bp
Sequences
Splice sites
5' ss Seq
CATGTATGA
5' ss Score
2.73
3' ss Seq
CCCCTTTTTTGTTCTTTCAGACT
3' ss Score
11.14
Exon sequences
Seq C1 exon
AAAAACTGGAAATGGAGGGTGCTTCTGAGAGCCTTTTTGTCAAGGATCTTCAAGGACGTCTGAACTCCTTGACCACCGTTCTTGGACAGGAAGTGGACCGGTTTAACAACCTGCTGAAGTTAATTCAT
Seq A exon
GTATGAGAGCTTACTTTCATCATTGCTATTGAGCATCAAAGCTTTGTAGAGAGTTGTATAATATGAAATTCTTCCATTCCCATCACTTCAGCATTTCCATTTGGATACACTAACAACTCTTCAAGCCCAATGAGTCTAAAAATGAATTTATCCTTCTCTAATGAATCTGTATTCCCATTTTCTAATAATGATGGAGTGAATATGTAACATTACAAATTCTCAGTCTCCTCCTTATCCTTACACCCTTAGATTCTATTGACTCACTAGAAATTGTTCAGAGACCTAAGCACTCAATTAAGAGTAATTCAGTGTTTGTTCCTAATGTCTAGTTTGCATTTCATAACATAGTCTTTAAGCGAGACTGTGAAAACCATAATCTGTCAAAGTGTGGGCCACAGAATGCCTGCATTAGAGTCCCCTGTGGTGTGTTCAACATGTGGATTACTTGATCCCACTCAAGACCTACTGAGTTAGAATTTCTTGAAGCAGGGCCTGGGAATATGAATTTTAAATAAACTCCCCAGATAATTTTAATGTCACTAAAATTTGCAAACACCTGTTTGATCTTCTGCTTTATGTTCATAGATACTTTCTCTCTGCATTGCCTTGCATTTGTAATGATGGTCAAAGGCCTTCCTAGTTTCTCTGTGCATAACTTTGATAAGAGAAAAAGAATAACTATTAGAAAATATTGAGCATTGACAGGAAAAGTGTTACTGCTAAGCAGGGAACCAAACACCTACTTCAAGGTCAAGACTTGGGGATAAGATTGGGGGAGAACTGGGAGAGATCTTTTACAGCTAAAGACCATTTCTGTTCCCTATCAGAAAGGCAAAGTCTCCGGAAGTTGCTGCTTGGCTGGCAATACCTAGGCTTGTTGGTTAGGCGGGTCAGCTGAGTATGTAGTCTTCACCTTGGGACTATGGCATCTAGTCAGGTATGCACCAAAGTCAGCAGGCTAAGTCTCTCTCCTCTCTCAGTCTCCTGGTCAGGTCACCAGGTCAGGGCTTATTTCCTTCTATATTGAATGAATTGGGGTACAGACTAAGCTGCTATGATAAAGACCCCCATAACATAGTCCAAAACAAGAGAAAAATTCACTTTACTCTCCCCTAACAGCCCTGAGGGAGCCCTGTCTAGGGCAGGTAGTTAATTCTGCTTTGTGAGCTCATCCAGGGATAAACAGGTTGGCTCTTCCAGTCTCAACAGACAACTTCTGTGTCTGGGTCTAAGGTGGCTGCCCCAGTTGTCCCCTTTTGCCAGCCAGTGGGAAGCAGGAAAGAGAGAGGCAAGGAAAAGCAGCTTCCTTATAAAAATGTGATCCAGTGGTAGTATACATCCTTTCTTCTTATATCCCATTAGCCAAAACTTGGTCACATGACCACAGCCCAGCCTCAAGGGTGGCTGGGAAAGGAGTCTCTCGATGGGGTGCTATGTGCCCAGCTAACACTAAGGAGGTGCTTTTGTTCTGAGGAACACCAGCTTATGTCTTGCCCTTTCCACATCATGAACTTTCACCCACTTGAATTTAAGTCCAGATGTCACTTATCCATAATGTCTTCCTGGAGACCAGCCCTTCCCTCTACTGCCAGATGAATTAGGGTCCCATCCTCAAGGCCCCATCATCTCAGGTCTCTGTGTCCACCACTGTATTCATTACATTTTTTGTAATTTCCCCCCTATGAGTATGGCTACTCTAACAAAGAATTTCTTAAAAACAAGGGAGATGTTACACTCGTCATCTTTGTTTCCTTAGTAACTGACATACTAAATCTTCCGTGAATATTTGAATGTACAAGTGAACAAATGTGACTCTCAGGTCTCCTTTGGTCACTTTTTCTGGTCAAACAAACCCCAGTCCACCACTAACAGAGGAATTCCCCTAATGGAAGCATAAGGGGAGGAGCCCAGGGACAGGTGACCTGCAGGGCCATCAGGAATCACAGCCAAGCATTCCCATCAGAAGGGAGGTGCTCACCACGGCATGCTGTAATTGCCAGAGGCCTTCCTCACCTGACCTCTAGTCCTAGACCTCAGGCCTGGTCCTGCCTTGCCATGGCTTTGTTCCCAGCCTCACCTTCCCTTCCCCTTGGGAACAGCCAGGCAGTACTATGGTGGCAATAAGAAAGCCAGGGGAAGGGAGCAGCACCCAGGAGTCTTGGGGAATGCCATCCTGGTGAACCCACTCTCCTCCAGACAGAACCGTGGGATAGGACAGGTCCTAGGAGTGACAAGGCCACCCTGTGTAGGCTTCGAGCCATAGGAGAAGGAAAGCCTTTGAAGTACTCTTTCTCCCACTTAATACATCTGTGTGTTGGCTGCCTCCTTTGGGAGAATCGACTGCAACATGACCTCTTTCTATTTTAAGCAGACCTTGAAGATCTCAGCAGTCTGCTCCCTCCACCTCTATCATTTTTTGTGTTCTCTCTGCATTTTAGATGAGTCTTCTGCTACTTCTTCCTATTTCCAGGTCTATCATGGAGGATGGTCTTGGCTCTGGCTAAGGGCCTCTTTCCTGCACTCTGCTGCAGATGGTTCCTCAGATCCTAAGGACAAATCTAAGTAAAACACTTCTTTTTTCTACCACTACCTCTTGTGAAAAGAGGTACAGGGAGAAGGGAACCAACAAATAAATCTGTGAAAGAATGGAAGGACACGTAGCCTTGTTTCATCCACACAATGCCTGTCGCTAAGATGCTGTGCATGTGGTCCCAGGCCTTATTTGGTTGCTTAGTCAACATAAATTTTGCCTCTAACGTCTTCCTATTATATTTTCCCAATATATGGCAGTTTTCACAACACTGCGACCCATGGGGGCCATAACCCAACTATATGCTCTCCCTTGTCTTTAGCCAGGTGGCAAACATCGCCCTGTACTCCACTCCAGCCCAGTGTCTCCCAGGACTGTGGCCTGCCTCCATCTTCTGGTGAGAGAAGGAGAGGCTTGGAGACATGTTTTAAGGAGGTGTTTCCAGTTCAAGGAGACCCTCTGATGCCAGCTGGAAGATTAGTCTCATCTAAGACTCTCCCCTTTCCAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCATGTTGGGAGGCTAAGGTGGGCAGATCTCCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCACATCTCTACTAAAAATACAAAAATTATCTGGGCATGGTGGCACATGCCTGTAATCCCAACTACTTGGCAGACTGAGACAGGAGAATCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATCATCCCACTGCACTCCAGCCTGGCGACAGAGCAAGATTCTGTCTCAAAAAAAAAAAAAAAAAGGAATCTCCTCTTTCTGCACTAACTCTGGGGTTTGGGGGAACCCTCTGAGCAAAAATGACCAGTAGCATGAGGTGGTTCTCACTCCCCATCTCCCCCTCCTCCTCACACTCTGTGCTTCCCAAATCACAGTCAGGCCTATTTTTCTTTTGGCCTGGAGGAGTGCTGGACAGTGGCATTTCTCCCAGCCACTTCTCCAGGCTTCAGGAGACATTTCTGCTTCCTTCTTTCCACTGCACTGGACTCTGCTTTCAACTGCCACCCTCAAGTGTTACACCGCAACGGTCACGTATTGTAGTAATGCGTGAAATATTGGAGGGTCTGGCCCAGCAGACAGTGTGCAAAGAGGATAGAACCTAGCAACTGGCGCCTCCAGGCAAGGCAGCCCCTGCTGTCATTAATGTGTGTCACTGACACTGGATAATGACATCTGCAAAGGCCACCAACCCCTTTTTTGTTCTTTCAG
Seq C2 exon
ACTTCTCTGGAAACACTCAACAAAGCCATCGCTGGATTTGTGGTGATGTCTGAAGAAATGGAAAAAGTGTATAACAGTTTCCTCAACAACCAGGTTCCCGCTCTGTGGTCCAACACAGCCTACCCATCCCTGAAGCCACTAGGATCATGGGTCAAAGACCTTATCCTGAGGACCTCATTTGTGGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115423:ENST00000237449:71
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:
PF0302810=Dynein_heavy=FE(5.6=100)
A:
NA
C2:
PF0302810=Dynein_heavy=FE(8.1=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
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