HsaINT0049806 @ hg19
Intron Retention
Gene
ENSG00000039139 | DNAH5
Description
dynein, axonemal, heavy chain 5 [Source:HGNC Symbol;Acc:2950]
Coordinates
chr5:13714514-13716799:-
Coord C1 exon
chr5:13716596-13716799
Coord A exon
chr5:13714730-13716595
Coord C2 exon
chr5:13714514-13714729
Length
1866 bp
Sequences
Splice sites
5' ss Seq
CAGGTTTGT
5' ss Score
7.44
3' ss Seq
CTGGGGTGTCTGTTGTTCAGAGT
3' ss Score
5.26
Exon sequences
Seq C1 exon
GGTGTCTCCTGGACCACCATCCGCTACATGATAGGAGAGATTCAATATGGAGGCAGAGTCACTGACGACTATGATAAGAGATTGTTGAACACATTTGCTAAGGTTTGGTTCAGTGAAAATATGTTTGGACCAGATTTCAGTTTTTACCAAGGATACAATATTCCAAAATGCAGCACAGTGGATAACTATCTTCAGTATATCCAG
Seq A exon
GTTTGTCAACTTCAGAATTTTATGCATAGAGCAAATATCTGTAGCCACTTGAGTTTTGGGTATTAATTACACTGTCTATATTGCTTTTACAATACATTTTAATGGTGATATATACTAATGCTTTTGCTGTGAAGGCTTTCTTCATATTTTTATACTCAATGGATGATTAAAATGTTTATATTTGTTCTGAGTGTGTGTTTTGTGTGAATCGTGTTTCCATCCCCCCTCTTTTTTAATGCCCCAGGGAGGAATTTTCTTTGAGGAAGATGATAGATTAGGCAGATTTAGAACTAGGAGACCTACACAAATCACCTGGAGTTCTCTGTCTGTGAAACTTCGGCTGCCACAGCAGTAGAGCAAAGGCAGCTTCTAGACCCAATTTGTTCTGTTTTCCAATCCATTTGACAAATCCCATGACATCTGTTCCTTAACCCTGGCCTAATGGACAGCCTATGGATATGTCCAGGAAGCTGCTTTGTGTAAGAACCTCCTCTAGGACAGGGTTTCTCAACCTTGGCACTATTGACATTCAGGGTTGGATCACTCTGTGTTGTAGGGGGCTGGCCTGTGCTGTTGAGCAGCATCCCAGGCCTCTATCCACGGGATGCCAATAACAACCCCATACCCAATTGTAAGAACCAAAAATGTCTCCTGAAATTGCCAAATGTCCTCTGGGGGGCAAAATTGTCGCTTGTTGAGAAGCACTGACATAAGAAGGAATAGGTAGATTTCTACAGGCAGTTTGGGAATAGGTGGGGAAAAAATTCTGATTTTCAAGGTGACTGCGTCTCCTTTCTCTATACCTAAAATTCATTATATCATTATTTAGCAGTCTCTTTGGTCTCTATCGAAGATTTATCTCAGAGTAAACAAACTAAAACATAACAGCCCCAGAGGGCTAAATTTATCAGTATATTTACATGTTGCTTTGATATACAAATGTAATGAGTTTATCATATATTACCGCCTCTGCACTTTTATTAATTCAAATCAGCAAATATATTTGTTTTACTGTACTGCATGTATCTTTAAATCATCAGCACTGAATAAGAAAAGTGGCCATGAAGGTATAAATTTGGGGGTGCCTGTACATATATTTTTATATATACCCCATCTCACAGTTTATTTGAGGTAGCTCATAAGAAGATATTATGCAAGAGGGAATAAAATGAGGGAGAAGAAGGGAGGGAAATACGAGTATGACTCAAATAATTAAGTTAAGGATAAGATTCATACATAGAAATATGTGTCAAATTGTCCGTAAATTTTCTTTTTTTTCAAACCGTTGGGGGATCTTTTTGCCTGCTTCTCCTGCTTCTGCCTGTGTCCCACACCATCTCTGTCTCTGTTTTTCTCTCTGACTCTGTTGCTTTCTCAGTTTCTCTCTTTTCCTAGTCTCTGTATTTTTCCCTGGGTGGGTATGACTCCCACGTGCTGCCTTTATTTGGACCACGATTACTAAAGCTGTCATTTCCTGGTATCTTCTAAACATAATAACCATTAGTTATACAACATTGATTTGGACAACTGGTTTGAAGTCTATTAGACTGTCATAAAGCAAAACACCAATCCACAGCTCCCTTTCTATCTCACATATTTTATAACAAGACAGTCTCTCTTGATTAAATTTTGTTTGAGGTGCAGACTGTAAAGAGCCATGAGCCTACTGTCTGTTTCTCAATGTTAATTGTTTTTTTAAAGGAAATTTGATTCTTTTCTGGAGAAATTATTGAGTTTGTAGCTTGACACCAATAAGACTTAAGTAAATGCATACCCTCATAGAAGCATTTTTGTTTCCTAAAATAGTGTAATTTAGACGGTGCTTATGTTGGCAGTCTGTGCTTATCTGGGGTGTCTGTTGTTCAG
Seq C2 exon
AGTTTGCCTGCCTATGACAGCCCTGAGGTGTTTGGGCTGCACCCCAATGCTGACATCACCTACCAGAGCAAGCTGGCCAAGGACGTGCTGGACACCATCCTAGGCATCCAACCCAAGGACACCTCTGGTGGAGGGGATGAGACCCGGGAGGCGGTGGTGGCCCGGCTGGCTGATGATATGCTGGAGAAGCTGCCCCCAGACTATGTCCCCTTTGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139-DNAH5:NM_001369:74
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=0.097
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=FE(9.6=100)
A:
NA
C2:
PF0302810=Dynein_heavy=FE(10.2=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:
TGTCTCCTGGACCACCATCC
R:
GTCTCATCCCCTCCACCAGAG
Band lengths:
345-2211
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)