HsaINT0049801 @ hg19
Intron Retention
Gene
ENSG00000039139 | DNAH5
Description
dynein, axonemal, heavy chain 5 [Source:HGNC Symbol;Acc:2950]
Coordinates
chr5:13917252-13919461:-
Coord C1 exon
chr5:13919285-13919461
Coord A exon
chr5:13917366-13919284
Coord C2 exon
chr5:13917252-13917365
Length
1919 bp
Sequences
Splice sites
5' ss Seq
AAGGTCGTC
5' ss Score
-0.51
3' ss Seq
CTTTTCCCTATTGTGCTTAGACT
3' ss Score
6.74
Exon sequences
Seq C1 exon
GTTCTTGCTGAAAACAATCAGCTGCTGAAGGAAGCGGATGACGTTGGGCCACGAGCGGAGCTGGAGCACTGGAAAAAAAGACTCTCCAAGTTTAACTACCTTTTGGAACAATTGAAAAGCCCGGATGTGAAGGCTGTGCTGGCAGTGCTTGCGGCGGCCAAGTCGAAACTGCTGAAG
Seq A exon
GTCGTCAGCCATTTCATTTTGCCTTGTGAAATGGGAATAAGAGTTCTCTATGCATATTTTCAAGGCATAGAGTGATTAGGAACAAAAAAATGTTATTATACCTTGATGAAAAACATTTAAAATTACATAATACTTCCCTCACATCACTTTGGAGGCTGCGGAAATAGTCTTTGAATGAAAGGCAATTGTTAGCTGGTGTACGTGTATGTATATGTGTTATTGGCATTGTATGTAATTAAGACAGAACATGATAGCATGTTTATATATATATCTATGTTTTATGATTTCAGACCAGCTAGAAATAATAATAATGAAAACTCACCCTATCTGTATTTATTTTTTAGTCCTTGTATATTAGTTTTATATTGCAAAACAACCTCCAAACTTAGCAGCTTAAAACAGTCAATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTTAAAAAGCACAAAAATTAGCTGGGCATAGTGTCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTTGCAGTGAGCCGAGGTCGTGCCACTGCGCTCCAGCCTGGGTGACAGAGTGAGACTCTGCCAAAATAAAAAACAAAAAACAAAAACAGCCAATATTTCAATCTCACACTCTATGGGCCAGGAATCTGGGTGCAGCTTAGCTGGGTGCCTCTGACTCTGGGTATCTCATGAGGCTACAGCTGTGATGTGGGTTCATCTTAGGGCTCAACGCGGGGAAGATCTGCTTCTGAGTTTACTCATCTGGTTGTTGCTGGATTCAGTTTCTTGCTGGCTGTTGGCTAGAGGCTTCCTTCAGTTCCTTCCCACATGGGCCTCTCTGTAGAGCAGCTTAGAACATAGCAGCTGGCTTCCCTTAAAGGGAGCAAGTGAAGGAGGGCAAGAGAGTCCCCAACCTAGAAGCCACAGTCTTTATGTAAATTAATTCTGGAAGTGACATCCCATCACTTTAGCCATATTCTCCTTATTAGAAGCAAGTCACTAGATTCAGCCCATGATCAAGGAGAAGGGATGAATACAAGAGCTTGAATACAGGGAGTCTGTGGTCACTGGGGACCGTCATAGAGGCTGCCTAACTCACCTGGCACTGGTGCTGGAAAGACTGTTTGTTAACTATTTGCATGGGTGTTATTAGCTATTTGCATGTTTTGATACGTAATAATTTGTTGCAATAAACGTGCTATAGATTTACCTTCTATTATTCCTCAAAGAAATAGCAGAGGTGAGCCTTGCAATACAGTTCAGAAATACTATCAGTCAGACTTCCGTGAAGTCAATGGAATGTACTGACGTGCTAAATAATTTCCTTTTACTTCTCTCACTTTTAGATTATCTTTCCATTTCTAAGTTCCTAGCTCATAGCACAGTACTGGCATACAGTTGGCAGATAATAAACAATTACTACATTAATGGATAAATGTATAGGGATATAGGAAGGGAGTTCAGGTTAGAATAGAGGAAAGATAGAAAATATGGAAGTGTGGTATCAAATGGGTCTGCTAACCAGTGCAGGGGAGAACGTGTGAGTTTAAAGGGCGGTGCTGCCCTCCTGGTGCTCTGTGATAGTCATAGCATAGATTTTATATGAGAAGCCCTGGAAGATATGCTTTAAAACATTGAGTCAAAAATTTTAAATTGCTTTCCAGCATAGCAATATCTCTCGCCCCTCTGGATTCAGTTTTCTGTGAGATGGACAGAAGGTCTCGCCTAATGGACTTGTGGTGACTCTTAGCAGTGGTTGTGTTGGAAGTTCCTCTATTAATAATTACATTAAAATTGCTTTTCCCTATTGTGCTTAG
Seq C2 exon
ACTTGGCGGGAGATGGATATTCGAATCACTGATGCAACTAATGAAGCAAAGGACAATGTGAAATACTTGTATACACTTGAAAAATGTTGTGACCCTTTGTACAGCAGTGATCCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139-DNAH5:NM_001369:7
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.017 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF083857=DHC_N1=FE(10.4=100)
A:
NA
C2:
PF083857=DHC_N1=FE(6.6=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAATCAGCTGCTGAAGGAAGC
R:
GGGATCACTGCTGTACAAAGGG
Band lengths:
278-2197
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)