HsaINT0049919 @ hg38
Intron Retention
Gene
ENSG00000118997 | DNAH7
Description
dynein axonemal heavy chain 7 [Source:HGNC Symbol;Acc:HGNC:18661]
Coordinates
chr2:195875675-195876699:-
Coord C1 exon
chr2:195876544-195876699
Coord A exon
chr2:195875844-195876543
Coord C2 exon
chr2:195875675-195875843
Length
700 bp
Sequences
Splice sites
5' ss Seq
ATGGTAATG
5' ss Score
5.46
3' ss Seq
TCTTCTCTTCTCATTCTCAGGTT
3' ss Score
10.88
Exon sequences
Seq C1 exon
AATTTTCTTTTAAATCAACTAAATAAGGAAATCTACAAACCTCTGCTAATTAACTTCTCAGCACAAACTACAGCAGCTCAAACTCAGAATATTGTCATGTCAAAATTGGACAAGAGAAGAAAGGGAGTTTTTGGTCCTCCTTTGGGCAAGAGAATG
Seq A exon
GTAATGACTCTTTGTACAGTACCCGGGCCTATTCATATACATTGCTGCAGTTGGAACAAGGAAACCAAATATCCTGGGGAGAGACATCTTTTTGTATAGTTTTTTAATGTCACAAATTTGGATTAAAAGGTTCTCCTAAAAATGTAGTTACATTTGTATGTGCACTAGACAGCTTGATGTTTAAAACAAGGAGTTGCCCTTTGAGTTGAAGGTAGAATATTCATCTGAGAAATTATCTACCTTCCTAATTTTTTCACTAACATTTTTATTCAGCAGTCTTTGCTGCTTGCTTTTGTAGACCTTCAGCAACACAGCTCTCAATAGATTTACCTGTGTTCCTCTGCAAAGAACACCCTTCTCACCCTAATCACACTTTTCTCATCTATTTTCATGAATTGAAGTGTAGTACAAGGAAAAAATATGCAGTATATTGAGAAACAAATTGTATGAGAGGATTAATAAGTCCTAAGCTATTAACCTACGAAGATTAGTAATGAGAATGTCTCCCTATTTCTTAAGGAATATGAATCCTAAAAGCATGGAAGCTAAGGATATTATCCTTGTTTAGAAAAGAAACCATCACTTCCTCATATGTACTCTGCAAATAGATAGCTAAGTATTTGCCTCAATATTGTTTACACAATAGGACTGTATGTTGAGATGTTAATATTTTCTGTACCTCTTCTCTTCTCATTCTCAG
Seq C2 exon
GTTGTCTTTGTAGATGATGTCAATATGCCTGCTCGGGAGGTATATGGGGCTCAACCTCCCATTGAGTTACTTAGACAGTGGTTAGACCACTGGAACTGGTATGATCTAAAAGATTGTTCCATGATTAAACTAGTGGACATTCAGATCATGTGTGCTATGGGACCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997:ENST00000312428:37
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(18.6=100)
A:
NA
C2:
PF127752=AAA_7=FE(20.4=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:
TAAGGAAATCTACAAACCTCTGCT
R:
CTGGAGGTCCCATAGCACACA
Band lengths:
302-1002
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