Special

HsaINT0049561 @ hg19

Intron Retention

Gene
ENSG00000187775 | DNAH17
Description
dynein, axonemal, heavy chain 17 [Source:HGNC Symbol;Acc:2946]
Coordinates
chr17:76462737-76464965:-
Coord C1 exon
chr17:76464699-76464965
Coord A exon
chr17:76462899-76464698
Coord C2 exon
chr17:76462737-76462898
Length
1800 bp
Sequences
Splice sites
5' ss Seq
AAGGTGGGG
5' ss Score
5.87
3' ss Seq
TCTGTGTCTCCCACACCCAGGTG
3' ss Score
9.83
Exon sequences
Seq C1 exon
ATTGACCTCGCTGCTCAGTACATAAAGGCTGCCGTGAAGAACGTTCCCTCGGTGTTCCTGATGACAGACTCCCAGGTGGCCGAGGAGCAGTTTCTGGTGCTGATCAATGACCTGCTGGCCTCAGGAGAGATCCCTGGGCTGTTTATGGAGGACGAGGTGGAGAACATCATCTCCTCCATGCGACCCCAAGTCAAGTCCCTTGGCATGAATGACACTCGGGAAACATGTTGGAAGTTCTTCATCGAAAAAGTGCGCAGACAGCTCAAG
Seq A exon
GTGGGGCTCCCGTCTTCGGCAGGGCCTCAAGAGCCCAGCTTGGTGCCCGTGGCCTACAGGGTATGGGTTTTTGCTCTGCATAGAGCAGGAGGACTGATCCTTCATGGGATGTGAAATCCTGTTAGGAGAGTGTGAGGGGTGGGGCTGTCTGATGAACCGGAGCCTGGAGACTTTTTCACGTGGGTCGTTAGAGGTATCTTGGGGCCAAAAGAAATGTTTTACAGTCGTCCTTTGGTATCTGAGGAGGTTGGATTCCAGGACCGCCATGGATACCAGAATCCACGGAGGGATGGATGCTCAAGGGCCCGATATAAAACAGTGTCGTATTTTTGAAGATGCTCCCCTCTACTTTAAATCATCTCTAGATTACTTATAATACCTAATATAATGTAGAATGCTATGTAAATAGTTGTTATACTATATTTTTATTTGTATTATTTTTTATTATTTTTTTTTAACAATTTTCAGTCCATGGTTGGTTAAATCCACAGATGTGGACAGACAACCGACTCTATGTGGACCCCCTCCCCACACACAGCTAGTTTAAGTAGATAAATGCACCTTGATACTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTTGTCGCCCAGGCTGGAGTGCAATGGCGTGATCTTAGCTCACTGCAACCTCTGCCTCCTGGGTTAAAATGATTCTCCAGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACACCTGGCTAAATTTTTTATTTTTAGTAGAGACAGCATTTCACCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATACACCTGCCTCGGCCTCCCAAAGTGCTGCCTGGCCACACCTTGATTTTCGACATCACCTCTAGGGTAAGCAGGCTAAACTCCCCTAGTAGGACAGAGAACCCCTTGGACCTATTGGCCCCGTCCTCTCCAGAGTTCAGTGGTGCTGCCCTTTGCGGGGTGCCAATCCCATAGCTCTCCTGGACACCTGCCGGCCATCGTTTTCCCCTGCTTGACTCAAACAGAGCAGGGTCCTCCCTCCCCTCTGCGGGCTGCATAGCCCAATTAGTGAATGTTATCTGTGAGCCAAAGGCATCCCCTGATAGGTGCTGCCTGCTCCTGGATCCTCTTTGGTGCCCTGCCAGTGCCGGCTCTGTCCTGCACCCTCACGTCATCACGCAGTGAGGGGTGCAAAGTCAGCTAAGCAGTGAGCCACCCCATTCAATGGCAGCGTCCGTGCAACACCTATGCCACGAAAGGGGACTAGAGAGCAAGAGCAGCTGGGAGGCTGAGACCCATTACAAGGGAGGTCCTTATCTAGCCAGAGAGCCCCCCAGGCCTGTCTCCACAGCACCTTCTCCAGCTGGGATCCCAGGGACTCCCTGCCCTTTCTGGGAATTAGCCACTATCCCTCAGGGCCCAGCGGGGACCCTTCCTGCTGAACCGAAGGGCTTGGGAGCCCGGCCCGTTCTGGGGCCTCATCTGCCCAATGTGGATGCCCACTCCCCATTCCTTCCTTTGCCCGGCCTTTTTTAGAGAGGCAAGGGCCCCTTCCAGAGGGATTGGGACTGCTAGCGAGAGGCATGAAGCCAGATGAGCATTTATCCACGGCAATGCAGCGGCCGCCCTTCAAACCCAGAACCAGGACTGTGCTGCCCAGGCCCTGGGCGGCTGAGCCCGGCAGGGCGCGTTGCTTTCTGGCAGAGCTTTCTGCAGAGTGATGGATTAGGCCCCAGCACTGCAGTCCCAGTAGGCAGCGCATCTGTGTCTCCCACACCCAG
Seq C2 exon
GTGATCCTGTGTTTCTCCCCTGTGGGCTCCGTGCTGCGGGTACGAGCCAGAAAGTTCCCAGCTGTGGTCAACTGCACGGCCATCGACTGGTTCCACGAGTGGCCGGAAGATGCGCTGGTGTCCGTCAGCGCCCGCTTCCTGGAGGAGACTGAGGGGATTCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187775-DNAH17:NM_173628:55
Average complexity
IR-S
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:
PF127802=AAA_8=FE(32.8=100)
A:
NA
C2:
PF127802=AAA_8=FE(19.8=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACATAAAGGCTGCCGTGAAGA
R:
CACTCGTGGAACCAGTCGATG
Band lengths:
349-2149
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