HsaINT0049920 @ hg38
Intron Retention
Gene
ENSG00000118997 | DNAH7
Description
dynein axonemal heavy chain 7 [Source:HGNC Symbol;Acc:HGNC:18661]
Coordinates
chr2:195873568-195875843:-
Coord C1 exon
chr2:195875675-195875843
Coord A exon
chr2:195873695-195875674
Coord C2 exon
chr2:195873568-195873694
Length
1980 bp
Sequences
Splice sites
5' ss Seq
CAGGTACAT
5' ss Score
7.79
3' ss Seq
TTATACTTTTTAATATTTAGGTG
3' ss Score
9.4
Exon sequences
Seq C1 exon
GTTGTCTTTGTAGATGATGTCAATATGCCTGCTCGGGAGGTATATGGGGCTCAACCTCCCATTGAGTTACTTAGACAGTGGTTAGACCACTGGAACTGGTATGATCTAAAAGATTGTTCCATGATTAAACTAGTGGACATTCAGATCATGTGTGCTATGGGACCTCCAG
Seq A exon
GTACATTTTTTGAGTTTGTGATTACTAAGATGGAAAAATCTCCCTAGCAATAGCTAAAGAAATAACTGGAAAAAAATCCTCTTTTGAGTTGCAGTGTTTTGTGTATATGTTTTCTATGTGTATCTATTGTGACCTAACAGAGTGTATCATATGACCAACTCTATAAAGTGGGTGACCTTGGATGGGCTATGCACCCACCAACTCTTCCAAAACTTTTTTTCTCCCACCTTCTGGAACTTTTTTCTCCCACCTTCTGAAACTTTTTTCTCCCACCTTCTGGAAGTCTTCCAAATCCTTTTTTCTCCCACCTTCTGGAATTTTTGCTCCCAATTTCCTGTTTCTGCCTTCTGAGAACTCACATCGTCCTGGGGCATCTCATCTTCCTCTGTGTCATTCCTTAATGCTTCAATTGTATAGAATGGTCCCTGCTTCAGAAATCATCTTTATTCTACCCCAAATCAAGTCCCATTCAAGTCAGTCTCTGGATTTAAACAGGCTGCTGAGAAGAATTTAAGTAGGGAATGGCCAAAAGATCCTTTAAATTTTCCAAGATAAATTTATACTCAAAGGAATCTCTGTGTAGAGGAAATTTGCTTTTTAATGCTGGGGTGTCTAAAATGGCTTGATTACTAACAAGAAATCTTTAACTGTTTTCTTCCTGACTATTTTCTTCAAGCCAGTATTCCATTTTTTAAAATGTTGCTTGTGTTGATATACCACTTCAGGGAATCTCTCCGGTATTTGCTCCCTAACCCTGACCTTTATCTGACCTGTAATGCAGTTTGTTCTGAGTCAGTAATTGCTCTCAGCACATTCCCTGGGCCATTTTGAACACTTTCTGTTTGTTTGTTTTTGAGACAGGGTCTCACTCTGTTGCTTAGGTGGGGTGCAGTGGTGTGATCATAGCTCACGGCAGCCTTAAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGCAGCTAGGACTACAGGCATGCATCACCATGCATGGCTAATTTTGTTTCATATTTTGTGGAGACAAGGGCTTGGGGGCATATTATTATGCCCAGGCTGTTTTTTTTTTTTTTAAATAAAAGACCATATTGCTCCTGGGTCTCAGACTTCAGTTCCACTTTGTCTCTCCCCCACCACCCCAAGCCAGGCATTTATACTCACATGTCCACTTTTCCCTGCCTCTTCAGGCATTGGTAAGAAAAGTATGCTGAAACCATGAGGTATCTTTTCCTTTCGGACCCCATTTCTGTTTTCTAAAAATATCACAATTCTGAACATTCTCTGGAAGGGTTGGAGACAGAGCTGGGGTAGATGATCTTACCATCTTTTCTTCTGCAACCCTTTCACCATCTCCTTAAACTGTTTTATATTTTCCAAAAGAAATGTATAAGCTCAAAGGAATCTTTCATTATTTTGTGGAAAAATCCCCCAATTTTTAAAGATGCAAGCAGCCAGTGAAGTCACTATATGAACTGTATAGACTCGTCTTGGGTAAATTCGCTTCAAGATGTGGGGGAAGAATTTGGCTATATGTCATGGTTGTGCTGAATTCGAGCCTTGTGGGAAGTACCCTAAACTTTGGTCAGTCAGATTCACCAGAGTTACGTTAATATTGTATAATATTACATTTTAATATTGTATTGAGGATGTTTACCATTTACTGCTTTAAGCTGTAAACTGTGGAGAACATGGCCTGTGGCTTTTTCTGCCTGGTCTGATTTCCCTTAGTAATATAGTTTTGACTCAAGATTATGTCTAATTAGTTTAACTCATTCAGATAATTCACCTAGAAAAGTAACGTCTTGAATTTGAGGGAAAAATAGTTTTGATGTCAGGGTTATCCAAACAATTGATTACTCTTAACTTCATGTGCCGTGAATTTGTCCATCTTTCAAGTTACTTTAAACTATAGAATATTTGAGAAAATACTCTTGTATATACTAGTAACATTATTAAGAGTTATACTTTTTAATATTTAG
Seq C2 exon
GTGGTGGTCGAAATCCAGTAACTCCTCGATACATGCGACATTTCAATATTATAACAATCAATGAGTTTAGTGATAAATCCATGTATACAATCTTCTCTAGAATCTTAACTTGGCATTTAGAAATCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997:ENST00000312428:38
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:
PF127752=AAA_7=FE(20.4=100)
A:
NA
C2:
PF127752=AAA_7=FE(15.3=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:
TTGTAGATGATGTCAATATGCCTGCT
R:
ATGCCAAGTTAAGATTCTAGAGAAGA
Band lengths:
278-2258
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