HsaINT0049927 @ hg38
Intron Retention
Gene
ENSG00000118997 | DNAH7
Description
dynein axonemal heavy chain 7 [Source:HGNC Symbol;Acc:HGNC:18661]
Coordinates
chr2:195855811-195857723:-
Coord C1 exon
chr2:195857377-195857723
Coord A exon
chr2:195855992-195857376
Coord C2 exon
chr2:195855811-195855991
Length
1385 bp
Sequences
Splice sites
5' ss Seq
TAAGTAAGT
5' ss Score
8.07
3' ss Seq
TTCAATTTTACTTTTTGCAGAGT
3' ss Score
7.63
Exon sequences
Seq C1 exon
GATATTACAGTGGTAAAATCCATGAAGAGTCCTCCTGCTGGTGTCAAGCTTGTTATGGAAGCTATATGCATCTTGAAAGGAATCAAAGCTGACAAAATCCCTGACCCAACAGGTTCAGGGAAAAAAATTGAGGATTTCTGGGGCCCAGCTAAGAGACTTCTTGGTGACATGAGGTTTCTGCAGTCACTTCATGAATATGACAAGGACAATATTCCTCCAGCTTATATGAATATCATAAGAAAAAATTATATTCCAAATCCAGATTTTGTACCAGAAAAAATCAGAAATGCTTCTACAGCGGCCGAAGGTCTGTGCAAATGGGTCATAGCAATGGATTCATATGATAA
Seq A exon
GTAAGTGCTGATAAAAAGAAATCCAGCTGGTATGGTCTGTCTTCACTTCTGGTCAGTTAGAAAATATACAATTTAAAAGTTATGTAAGTGAGAGGCTCCTTGGAAAATCCTGTCTGAATTTGCTTTGTGTTTGCATATTTACTGGAGGCAAGATTATGCCAACTAATAGTATAATACAGTGGTTCTTAAACTTTTTGGACTCAGGAACTGTTTATACTCTTAAAAAGTATTGAAGACCCCAATAAAATTTTGTTTATTTACCATATTAGAAATTAAAATGGAAAAATTTTAAAAATGTTTATTAATTCATCTTAAAAAGCAATAAAAATGTTACATGTTAATACAAGTGATTTATTTTTATTTTTTATAAATTTACATGTTTTTCTTTTAAAAATAGAAAAAAATACTGATGAGAAGAGTGGTATTTTATTATACTTTTACAAATCTCTTTAATGTGTGGTTTAATGTGAGATAGCCAGACACCAAAATCTGCTTCTTCATTCATTCTGTTGCAATATGTTGTTTTAATTAAAGTATATTAAAAAAAAATCCACCATCACACAGAGGTTTAGTTGGACGAGGGAAGACCTCGTGAGCTCCCCAAAGGGGCAAGTGTCGTCAGGATCCCCAGGGGTCCTTGGACCACACTTTAAAAACCACTGGCATAATGTATTCTTGTGAAATAAGGAGCCTTTTTTGGTGATTATATGAGAACTAGTTATATCATACGCAAAACAGGGTAATTATTATTTTTTCAAAAAACAACTGTCATAGGATGTTTTTCAAACTCATATCCAATTTTAATCATTCTATATATATAGTAGTGCTATATATGTTTCAGACCATGATATTAGTTAATGATTAATTTAATGTTTGTTAGATAACATGACTGACTCCATTTTCCAGATACTAGGGAGAGAATTTAGATCCATCCTTTTTCCTATATAATTCCTTTTATTACCACATACGTATTTATAGGATAACTGTTTTTGGTTGATGTATTCTAGGATTTTTTTAAGTAAAATGACAAAGATAAAAGATACCTCACTTTCTCATGAAAACTCACCTTTAACCAATTAGGCTTCTAATAACATTGTAATATTCTACATGACTATCCTACTCTCCTTTTGGAAAGTTATCAAAATTCATACTGGCAAAATGTTTTTTGTATATTTGATGTCTATTTTAATAAAAGGCCATTTCTTGTGTCCAGGATCAAGTTTGGATGATTGTTAGATGAAACAGGAAATATGGAAATCGGTTTAGATTTTTGCATAAAGAAGTGTTTTCAGTTATAGTAAGGGTATTAGAAAAGTAAATTCAGTGATAGAAAGTGTACTGGAATATTAAATGAATATTTAATTTTTCAATTTTACTTTTTGCAG
Seq C2 exon
AGTGGCAAAAATAGTAGCTCCCAAAAAGATAAAACTGGCTGCAGCTGAAGGGGAGCTTAAAATTGCCATGGATGGTCTTAGAAAGAAGCAGGCAGCCCTTAAGGAAGTTCAGGACAAGCTGGCCAGGCTTCAAGACACACTTGAATTAAATAAACAAAAGAAGGCTGACCTGGAAAACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997:ENST00000312428:44
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:
PF127772=MT=FE(32.8=100)
A:
NA
C2:
PF127772=MT=FE(17.1=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGCCCAGCTAAGAGACTTCT
R:
AAGTGTGTCTTGAAGCCTGGC
Band lengths:
349-1734
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