Special

HsaINT0049990 @ hg38

Intron Retention

Gene
Description
dynein axonemal heavy chain 8 [Source:HGNC Symbol;Acc:HGNC:2952]
Coordinates
chr6:38863873-38866677:+
Coord C1 exon
chr6:38863873-38864060
Coord A exon
chr6:38864061-38866590
Coord C2 exon
chr6:38866591-38866677
Length
2530 bp
Sequences
Splice sites
5' ss Seq
ATGGTGAGA
5' ss Score
7.23
3' ss Seq
AAACATATTTTAACTTTTAGAAC
3' ss Score
7.07
Exon sequences
Seq C1 exon
GTCTTGCACAGTCGGGTTCCTGGGGCTGTTTTGATGAGTTTAACAGAATTGAATTGCCTGTATTATCAGTGGCAGCACAACAAATTTATATTGTTTTGACAGCAAGAAAAGAAAGAAAGAAACAGTTCATTTTTTCTGATGGTGATTGTGTTGATTTAAATCCAGAATTTGGAATCTTCTTAACGATG
Seq A exon
GTGAGAAAAAAGGCTTTAAATGCAATTTAATTAGTTTAATTGTTACAGACATAAATAAAACAAAGCATGTGTTAATGGGTAGATGACCAACTATCCAGGAGTTATAAGCTGTTCTCTCTTACCATATGATTTTTTTTATGTCATTATAACCCAGACAGAAGATAAAATAGTAATTTTTTTCAATTAAAAAAAATTCAGATCCAGACCTACAGAGGTAATATGCTAAGGATAATAATAGATACTGTTTATTGACCACATAGTATAATATGTGTAAGGTGCAGGCTAAATGTTCTATGTGCTATATCAGATGGCATAACTCATGTGGTTCTGCAGTAACAAACAATCCCTAAATCTTAATTGCTTAAAGCCACAAGGTTTATCTCTCTGTCATGCCACATGTCCACTGTGGGTTGACTAGGGTAGAAGTAGGAGGCCAGGGCTGCTTTGTATGTCTTTACTCTAGTACTCGGCCTGACGAGGTACCTACTATCTCAATCATTGCTCTTTGCTGTAGCAAAGGAAAAAGAGAACATGAAGAATTGTGCTCTGACTCTTAGAGTTTCTTTCCAGAAGTGACACAAGTCCTAAGACATTGGCTAAAGCAAGTTTCACGACCTAACTTCAGGGGGTGGTGGGGTGGGGGAAAACGTGCCATCCTATCGTGTAACTAGAAACAGGAAGGACCTGAAATATTCTCTCACATGTACACTGTATCTTATAGCTATGATAGCCCTCTGAAGTGGATATTATATAGCTGACTTACCTGAGGCTCAGCGAGACTTAAAAACTTCCTAGGTCACCCAGCCAGTAAGAGAAAGAAGAAGTTGTTGTCTCTCTAACATAAAAATCTGACTGCTTAACCTCCACACTTGGTTTTTCTTTGACACCGAATAAAAGGAAATAAAAATAAAATTTCTGCAATAATTTAACAAGGTCCTATACGAAAGAATTGTAACAAATTCAGTTACCATGTGATTAAGGGTGAGCTTTGAGATTCAGTGTTGTAAAGATAGGAAACCAAAGGCATGAATAAACGGGAGTTTTTATGCTTTTATGTATCACCAGTTTTAAAGCTTTTATGTGTTTTCCATAAAGTTAAATCTCGAAGTTGCAAGATAACACAAAGCACTCTGAGTTTTTAAATGTCCCCATGGATAAAGATGATAAATTATAGGAAGCAAAATCAGAAATGTTTCTGATACACTTTATTGTAAGCAAACATCCAGTAAAGCAGTTAGGGGGAAATAAGAATAATCTGAAGTATTGATTATAAGTCAGGAAGTGGGATGAAGAAATGTACTCAGTGTAAAACTGTGGTCTAGAATTTTACAAAAAGCTTAACATGCTCCCTGGATTAAGAATAATATTGGAAATAGCAATTAGATATTGCATTAAGCTGTGAGTAACTGAAACCTAAAAAAAATTGTAGTTTAACATGTAAGGATTCTCTTAAGATCCTTTTATGGTTCTACTCCATCATGAATTCCATCTTCAAGGTCACCTTATGAACCAAGATGCTACAGAAAGCATCTCTATTGTGTTGCAGCCAATTGACTGAGTCAACTCTCTTCAAAAAAACATCAAGGATATTTAGTACAGTGTGCCCCTTTGCATCTCGCAGTGTAGAATATAATCACAGCAGCTGCAAGGCAGGCTGGGAAATGTAGTTTTTAATCTAGGTGTTGCTGTACCCAGCTTGCAGGTGGGCTCCTGTGGCTCAGGAAGGTTAAGAGGAGTATTGAGAGGCAGCCTCAATTTCTGTATTTCCAGCCCCTAGCAAGGTACCTGGCCTATTGACAGTGCCCAGTAAATGGTCAGGGACTGAAGGTTTTTAACAAACTTGCCTAAAATAACTCATTCCTGTTGGCCTTACTTGTCTTTGAATCTCCAACCTTCCTTTGAGACTTGGGTCTGACCTCTGTTCAACCTGTTGCTTCTTAGGAGGACTTCATTTCCTGTCTGTCTCTACTTTTGTCCATTTCAGTGTTTTTCCCATCATTCCCTTCTTTATTTCCCCTCACTGCCATCTTTATTTCTCCTCACTTCCATGGGTTTTTGTTAGCCAAAGAGCTCTGTAACTGTGGCTGCAAAGAATAATTGAAGAGATGGAATAAAAAAAATGCCCAAGGAAGCTCATCAGTATAAAATCCTTAGTTTTTTTCTTCTTTCAATAACATACTTTAGACCATAATTATCAGGTATCTATTCAGTTTTCTCTTGTATTATTTCACGTTCTTTTCTATTTTTAAGCCAGCAGACACAATTTTCTATTTTTTAAGTCAGTAGACAATTTTGCCACACAAAATTGTGTGTGACTTTATTAATATCATGAAAATGGAAATATATAAAAGGGCATATAAATATTAATATACATGGTCTAATACATATTGTTTTGAGAAAACAAGAGTATTTTATGAATCTAATATTTTCAATACCATCTTAAAATCTGAATTAGGGGTTTGAAATATATTTGTATTCAGAAATGAAAATTGTTTTAGCAATTAAAAATTAAACATATTTTAACTTTTAG
Seq C2 exon
AACCCTGGATATGCTGGGCGCCAGGAACTACCAGAAAACCTAAAAATCCAGTTTAGAACTGTTGCTATGATGGTTCCTGATAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124721:ENST00000359357:43
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.001 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF127742=AAA_6=FE(26.7=100)
A:
NA
C2:
PF127742=AAA_6=FE(12.1=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
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