Special

HsaINT0049523 @ hg38

Intron Retention

Gene
ENSG00000187775 | DNAH17
Description
dynein axonemal heavy chain 17 [Source:HGNC Symbol;Acc:HGNC:2946]
Coordinates
chr17:78530343-78532736:-
Coord C1 exon
chr17:78532482-78532736
Coord A exon
chr17:78530513-78532481
Coord C2 exon
chr17:78530343-78530512
Length
1969 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCGT
5' ss Score
9.73
3' ss Seq
CCGGTGGCCGTGTTTTCCAGATC
3' ss Score
8.61
Exon sequences
Seq C1 exon
ATGGACCTGGAAGATAACACAGACCTCATAGAGATGAGGGAGGAGGTGTCCAGCCTGGTCATCAATGCCATGAAGGAGGCCGAGGAGTACCAGGATTCCTTTGAGAGGTACTCCTACCTCTGGACGGACAACCTGCAGGAGTTTATGAAGAATTTCCTGATATATGGGTGTGCAGTCACTGCGGAGGACTTGGACACCTGGACAGATGACACCATCCCCAAGACACCGCCCACCCTGGCTCAGTTCCAGGAGCAG
Seq A exon
GTGCGTGCAGACCTCACCCACCAGCCTCCTTGTCTCCAGAGTCTTCCAGGAGAGGATCACCAGGCTTGCTTTAAAACTTGGGTGAATTGTTTTAAGATGCAGGTTTCCAGGTAGGGCAAGGCAAACATCAGGAGGTGACCACCATTAGAAAGGCAGTTTGTTACTTACAGTTCCCAAGAAGGGGGCATAGCACACCACACAGGCCTGCACGGGGTAGCATCAGGGTCAGTCAGGAGGCAGAGGGAGCTGGGGAAAATGTGGGGAAAATAAAGAGCCTTTATTGTGGCTTCCAGGGAAGGAATGGGCAGAGGTCACAGGCTTAGGGTTGGCAAGTTTGAATAATTTCAGCAGGCTCTAGGCTATAGGGGCTGTCTGGTACCTGACCTCAGGGAGATGAGGGCTGAGGGCTAGTGGGTAGCAGCCCAGAAGGTAAAACCCTGTGAGAGCCCCATCAAGGGGATGGTCGGAGGTGTGGGCTCCGGGTTGGCTCATTTGCATATGAAACCACACCCCCAGGTGAATTGTTTGTTGTCTCTCAAAATTGACTAGGCCTGGGAGGGGTCGTCCATGGGCAAGGCCCCAGATGTCAGAGCATGAAGAACACAGAAAATCACACCTGTCAGTGTAATAACCTCAAATGTAAATGGATTCAATTCCCCACTTAAAAGATATAGATTGTCTGAATGGATGAAGGTAACCCCAATATATGCTGCTTAGAAGAAACTCACTTCACCTGTAAAGACAGATTGAATGCAAAAGAATAGAAAAAGAGATTCCACACAAACAGAAACCAAGAACAAGTAGGAATAACTATAGTTACATCAGATAAGACAGACTTTATGTCGGCCGGGCGTGGTGGCTCACGCCTGTGATACCAGCACTTTGGGAGGCCGAGGCGGTTGGATCGTGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTGTACTGAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAGACAGACTTTATGTCACAAACAGTAAAACGAGACCAAGAAGGTCACTATGTAATGACAAAAGGATCAACTCAGCGAGAGGATTTAACAATTCTACATATCTATGCGCCCAGCACCAGAGCACCCAGATATATAAAGCAAACAGTGGTAGATCTAAAGGGAGAGACCCCAGTACAGTAACAGTTAGGGTTTTCAACACCCTGCTCTCAGCGTCAGACAGATCATCTAGACAGAAAATCAGCAAAGAAACATTGGAGTTAAACTGCACTTTAGATCACAGGGACCAACAGACAGCTACAGAACACTTTACCCAACAGCTGCAGAAAGAATGCATAAAATAAGAAAACATAGTTAACGCACAAACCTCTAGCTCTGTTCCCAATGCACAGTGAGAAAGAGGGCCCCGTGGGCAAGGGTGACCCATGCCCAGGGGTACATTCTGTAGCACAGGGTTGGGGCAGCAGGAGGAGTGACAGAGGCCTCAGGTAGAAGGATGAGCTAGGGATGCCCTTTAGGAGCCTGTGACCTGGTTCACCTCTTGAAGCTTCTGTCCTACCCAGCTTCAGAAGTCCTGCTGCCATGACCCCTTCTGCCCCTTTCTGATGGACTGGCACCTTCTGGGGCTAGACTCTGGGGCTGGAAGGAACAATAACTTGGAATGAGGGCCCCCATGTGTCCCGTACTGCCCTTTGCTGACCCTGGCCCCAGAGTGGCCGGCAGGTGAGCAGCGCAGGTGCAGTGCAGGAAGGCCCTGGACTGAGGCCCTGTGCTGACGCCCCCCCTAGGCTTGCAGGCTATGACAGGCCGCCGGTGGCCGTGTTTTCCAG
Seq C2 exon
ATCGACTCCTACGAGAAGCTGTATGAGGAGGTGTCCAAGTGCGAGAACACCAAGGTGTTCCACGGCTGGCTGCAGTGCGACTGCCGCCCCTTCAAGCAGGCCCTGCTCAGCACAATCCGGCGCTGGGGCTTCATGTTCAAGCGGCACCTGAGCAACCACGTCACCAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775:ENST00000585328:20
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.012 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTGGTCATCAATGCCATGA
R:
AGGTGCCGCTTGAACATGAAG
Band lengths:
352-2321
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