Special

HsaINT0049542 @ hg38

Intron Retention

Gene
ENSG00000187775 | DNAH17
Description
dynein axonemal heavy chain 17 [Source:HGNC Symbol;Acc:HGNC:2946]
Coordinates
chr17:78494959-78496032:-
Coord C1 exon
chr17:78495875-78496032
Coord A exon
chr17:78495098-78495874
Coord C2 exon
chr17:78494959-78495097
Length
777 bp
Sequences
Splice sites
5' ss Seq
CAGGTACGT
5' ss Score
10.65
3' ss Seq
GGCACCGCTGACCTCCCCAGGCC
3' ss Score
5.79
Exon sequences
Seq C1 exon
GTAAAATGTGTCCAGGATGCAATTCGGGCCAAGAAAAAAGCATTCAATTTCCTGGGAGAGATCATAGGCCTCATTCCCACCGTCGGTATCTTCATCACCATGAACCCTGGGTACGCCGGACGCGCGGAGCTGCCTGAGAACCTAAAAGCCTTATTCAG
Seq A exon
GTACGTGGCCCAGGTGAAAGTGAGTGGCTGCAGTGAGCCAGGCCGGCCACAGCAACGTCCCAGTGCCAAGGAGTGGGCAGAGGGGAGGGGCAGAGGGCAAGCTGGGGAGGGAAGAAGTCATCAAAAGCTCCCAAGATGGCCGGGCACAGTAACTCACTTCTGTAATGTCAGCACTTTGGGCGGCTGAGGAGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCCGGTCAAGATGGTGAAACCCCGTCCCTACTAAAAATACAAAAATTAGCTCGGTGTGGTGGTGCATGCCTGTAATCACAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGGGATGGCACCATTGCACTCCAGCCTGGGCAACAAGAACAAAACTCTGTCTCAAAAAAAAAAAAAAAAACACTCCCAGGATGAGGCAGGCGAGGGCCTCCTTAGAAAGCACTCTGTCTTCCCCTGGGTGGGAGGACCGCACCTGGGACACAGTGATGGAAAGCAGGGTTGGGGGGTTGGGGTGGCTCTCAGAGGAGGGGCCCTGAAGGTGCACCCAGTGGATGATGTGGGAGGAGGAGGGAAGTAGGGAGCAGGCGGGCTGGGAGCCCGGCTCCAGGACCGAAGGTTCAACACTCTGCTGTGGTCTACCTGGCAGTCGAGGTGTGCTCTCCTAGGTGAAGAGGGACAGGCAGGGGTGTAGGTTGGGGAGGGAGTGGGCAGAAGCCCACAGGCACCGCTGACCTCCCCAG
Seq C2 exon
GCCCTGTGCCATGGTCGTCCCCGACTTCGAACTGATATGTGAGATCATGCTCATGGCCGAGGGCTTTCTGGAAGCCCGCCTTCTGGCCAGGAAGTTCATCACCCTGTACACCTTGTGCAAGGAGCTGCTCTCGAAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775:ENST00000585328:38
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:
PF127742=AAA_6=FE(22.5=100)
A:
NA
C2:
PF127742=AAA_6=FE(19.9=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:
GTAAAATGTGTCCAGGATGCAA
R:
CTTCGAGAGCAGCTCCTTGC
Band lengths:
294-1071
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