Special

HsaINT0049856 @ hg38

Intron Retention

Gene
Description
dynein axonemal heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:2951]
Coordinates
chr2:84701097-84703562:+
Coord C1 exon
chr2:84701097-84701339
Coord A exon
chr2:84701340-84703394
Coord C2 exon
chr2:84703395-84703562
Length
2055 bp
Sequences
Splice sites
5' ss Seq
TCAGTAGGT
5' ss Score
4.29
3' ss Seq
AAATTTTCATTGTCACTTAGGCA
3' ss Score
4.99
Exon sequences
Seq C1 exon
TGGCCCAGAGAAGCACTTCTTTCTGTGTCAAAGACATTTTTCTCACAAGTCGATGCTGGAAATGAAGAACTGAAAGAAAAGCTTCCCTTGATGTGCGTGAACGTTCACTTGAGTGTCTCCAGCATGGCAGAGCGCTATTACAATGAGCTGCGCAGGCGGTACTACACGACACCCACCTCCTACCTGGAGCTTATCAATCTTTACCTGTCTATGCTGTCTGAAAAAAGGAAGCAGATTATTTCA
Seq A exon
GTAGGTTCAATATTATCCATGAAAATATTGTTTTGCTTGAACTCAGAACTTTTGAGAATGCATGGAAACTCTATGCACTGTCTTACCTGTCAGGGCCCTGTATTAGTCCATTCTCGCACTGCTATAAAGAAATACCTGAGACTGGGTAATTTATAAGAAAAGAGATGTAATTGGCTCACAGTTCTGCAGGTTGTACAGGAAGCATAGTGCTGGCATCTGCTCAGCTTTTGGGGAGGCCTCGGGAAACTTTCAATCATGGCAGAAGGTGAAGAGGAAACAGGCACATTTTATGTGGCAAGAGCAGGAGCAAGAGAGAGAGGGGGGTGGTGCCACACACTTTTAAACACCAGATCTCACAAGAACTCACTATCATGATGACAGCACCAAAGGGAGGATGGTGGTAAGCCATGAGAAACTGTCCCCATGATCCAATTACCTCCCACCAGGCCCCACCTCCAGCATTGAAGATTACATTTCAACATGAGATTTGGGTGGGGACACAGATCCAAACCATATCAGGCCCTCTCCATCATGACATGTGCCCCTGACAACCTAAAATATGACCAAAAAGTGTTTCCTGCTGTTGGTCTGAGGGCCTTCTCCTTTTCAATAATTATATATATTTTCCTTCTGCCATTTATGCAAGTATCCTTGACTCAGTAGAATGATATGGGCATCACAAGACCATCAAAGTTATGCAGTGAACTGGTCATCTCTATGGTATTTAATACAGAGGAAAACATTTTGTTAAGCAATACAGATGGTGTTTTAAAGAACATGTGCCAGTGGTTCCGACTAAGAGCAAGGACTGGGGTATCAGCCAAACTGTGTACAGCCTATGTTCTGCCTCTGGCTATGCAACTTTGAGCACATTAGTAACTTCTCTAAGCCTTAGTAGAAAATAAGGCTAAAAGAAAATCTGTATCTACCTCTTGGATTGTCGTGGAATTTAGGACACTTTGTTAGTGAATTCCTGAAACTATGATCTGACACATATAAAGTGCTCAGAAAATAGAAGCTGCTGTCATCATCATCATCAGGAAATTAACATGACCTACAATTTTCTACATTTTAAACACACTAAAAATGGAAGCACTTACAATATAGATATTTAAATTTTTTCAGAGGGTTCTTACCTGGTTAAATGCCTGCCTTGTGAAATAACTTGACTGATATTTTTGAAATCTGCCCATTTGAACCAGCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCGTGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGTCAACCGCCACCACGCCCGACTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTAGCCAGGATGGTCTCAATCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGATGTGAGCCCCTGCCCCAGCCATGAGCCAAGCTTTCTGACTCACCTTCGAAAAACAGTTCTTCCCAGGTGTCTCCTTTACCAGATACCAGCCCTTTGATCATGGTCAAGAGTTTTCTACCACAGGGAAGTAGGTTTCAAATCCAGCAGCTAGAGCTACACCCTCTGGACCTCATCTCCCTAGGGGTCCTCAGCCCTGCTGGCCAGAGCAAACAAGCTCCCAGAGCTGCAGCCTCCAGGGATTCACATCTGGACCTGTTCCTCACTCATTCAACATGCTACCACAGGGAATAAAAACAGTACCATGTGGTCCTTACTCTCAGTGAGCCACAGCCCAGTGACGTCCCACTGCTGTGGCCAGAGGGCATGGATCCAAACAACTGTGATGAATGTCATGGCCATTTCTAGAGTTCCATTATCTGAACATTTCCCAATTTGTAATATGTTCACAACCTGAATTATTACAAACTGATTTAACAATTCTGTAGACGTAAAAGTCTAATACATGAGTAATATGTGTTCGATACCAGTAAACTTAGAGTTTATAATGCTCATTATAATATAAATTTTCATTGTCACTTAG
Seq C2 exon
GCACGAGATCGGGTGAAGAATGGTCTCACCAAGCTACTAGAAACAAACATACTAGTAGATAAAATGAAACTAGATCTTTCAGCTTTAGAGCCTGTACTTTTAGCAAAATCAGAAGATGTTGAAGCCCTGATGGAAAAATTGGCAGTGGATCAAGAAAGTGCCGATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115423:ENST00000237449:48
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=0.070
Domain overlap (PFAM):

C1:
PF127802=AAA_8=PD(26.3=87.7)
A:
NA
C2:
PF139001=GVQW=PD(9.1=33.3)


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

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development