HsaINT0049616 @ hg38
Intron Retention
Gene
ENSG00000183914 | DNAH2
Description
dynein axonemal heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:2948]
Coordinates
chr17:7778077-7778469:+
Coord C1 exon
chr17:7778077-7778180
Coord A exon
chr17:7778181-7778279
Coord C2 exon
chr17:7778280-7778469
Length
99 bp
Sequences
Splice sites
5' ss Seq
CAGGTCTGC
5' ss Score
5.61
3' ss Seq
GTTCTGTCCTCAATTCTCAGGTG
3' ss Score
9.71
Exon sequences
Seq C1 exon
GATCTTGATGACTGTGTCATCCGCCAGACCAACACGCAATTTCAGTATAATTATGAGTACTTGGGTAACTCGGGCCGGCTCGTCATCACCCCCCTGACGGACAG
Seq A exon
GTCTGCCATGTGGGATGAATGAGGTGGCTGGGGTGGGGGGCAGCAGAAGCTGAGAGAGGCTTCCAGGAGTCTGACTCTAGTTCTGTCCTCAATTCTCAG
Seq C2 exon
GTGTTACATGACACTGACCACGGCATTGCACCTGCACCGAGGGGGCTCCCCCAAAGGCCCTGCAGGCACAGGCAAGACCGAGACCGTCAAGGACCTGGGCAAGGCCCTGGGCATATATGTCATTGTGGTCAACTGCTCTGAGGGCCTGGACTACAAGTCCATGGGCCGAATGTACTCAGGTCTGGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914:ENST00000572933:34
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=0.125
Domain overlap (PFAM):
C1:
PF127742=AAA_6=PU(8.2=54.3)
A:
NA
C2:
PF127742=AAA_6=FE(27.3=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCAGACCAACACGCAATTTC
R:
TCCTTGACGGTCTCGGTCTTG
Band lengths:
175-274
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