HsaINT0049424 @ hg19
Intron Retention
Gene
ENSG00000174844 | DNAH12
Description
dynein, axonemal, heavy chain 12 [Source:HGNC Symbol;Acc:2943]
Coordinates
chr3:57327727-57329620:-
Coord C1 exon
chr3:57329553-57329620
Coord A exon
chr3:57328000-57329552
Coord C2 exon
chr3:57327727-57327999
Length
1553 bp
Sequences
Splice sites
5' ss Seq
CAAGTAAAT
5' ss Score
4.44
3' ss Seq
ATTTCTTTTTTTTTTTCAAGCTC
3' ss Score
8.75
Exon sequences
Seq C1 exon
TGGATTGCTTGCTGAACAATATCCCAAACTTCTGTTTGACCTGATGCCCATCATATGGATAAAACCAA
Seq A exon
GTAAATATTCTCTCAACAAAATTTATTTGAAGTTTAGGGAGAATAAGGATGGATATTATACACTGCTCCCCAAAATAAGTTTTTGCTCAAACCTTTTAGGATCTAGCTCAATTATAATAAACATTAATAGAACATTTACATTAGAAATTATTATTATCTCTTTGTGTGTATGGCATTTATATTATTTTGGGAATACCATGCTGCTTTTTTATCGTAGCCTATGGGATATGTCATTCTTTTCAGCCCCTCCCCCCACTTCTACAAGGGGGTTCACAGATTGAACAGCTGCCCATCCATATTTTGATTCTGAATTCCCTTTACACATTGCTCAGAGGCACAAATTAGCTTGACACAGTCTCCCGCTAGTGACTAGCATTTTCTGGCTATAAGAAACTGCTAGGCCTAGGAGCCAGCCAGGTCCCCCAAGGCATAGATGTTGCTAGCCACATGGGGTGGGGGCCAATTTTGCCCCATTTAGGAAACTGCTTGCTCCTCCCCTGCTTCTGCCATCATCATCTTTCTACAAGTCTGGAAAAAAAAGTCTCATTCTTTTGTTTTCTCTTCCCTAACTTTTTAATTCTTAAATAACAACAATTTCTTAAAATATTTACTGATCACCCAGAATCACCATCCAACCTATCAAATATTCTCATTACGAATGTGGTTCAGTTATAACTATGAGAAACGTGACCTTAGTTTGGAAAGACTCTTAATATCTTATATCTGGCTTTTTGGGGATTGTATATAGTTTCTTTTCATGAATTGGTAAGAGTTGACATGTTTTTCTTATTATTTACCTGCTAAAAACAAATAGAAACGTCAGCTTCTTCTAATGTGTGGGTTTCTTGGATTAGAGCTCTAAGCAGTTGTATTTCTTCTTTTGAGTCTCCCCCACTACCTATACTGTATTTTATTCCTTCTTCCCTCCCTTCTCATTCTCCCCTCCCAAATCCTCTTGAGTTTTCTCATGCCTGCTAAGCGGTCAGAACTTTAAAGTCTATTCCTGTCTTCCACACCTAGAATCATGCACCATACGAAATACTTGCCTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAAGGCATGGTGGCAGGCACCTGTAGTCCCACCTACTCAGGAGGCTGAGACAAGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGTACTCCAGCCTAGGTGACAGAGTGAGACTCAGTCTCCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAATACTTGCCTTGTTTCACAACCGTAATACTATATGTACTGTAAAAAAATATATATGCTGTAAAACCTTCATATATCACAATTATGATCTTAGATTTAGTTCTGGCCATTTTATTACAAGATAAATAGTTCTTTTCGTACCAATGGCTGTTTTTCCCTTTATCAAGTGAATATATTTCTTTTTTTTTTTCAAG
Seq C2 exon
CTCAAAAATCTCGGATTATAAAGTCGGATGCCTATGTCTGTCCCCTCTACAAGACAAGTGAACGTAAAGGAACTCTTTCCACTACGGGACATTCTACTAACTTTGTCATTGCAATGTTGTTAAAAACAGACCAACCTACTCGGCACTGGATCAAGCGCGGGGTTGCTTTGCTTTGTCAGTTGGATGACTAAATTGGACAAATTTATAAAACATCCAAAAGTTTAAAAAAAAAAAAACCTGTCCTACTTAAAATATATACATTATAAAACCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-DNAH12:NM_178504:58
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=0.000
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=FE(5.7=100)
A:
NA
C2:
PF0302810=Dynein_heavy=PD(8.3=92.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGATTGCTTGCTGAACAATATCCC
R:
AATTTGTCCAATTTAGTCATCCAACT
Band lengths:
270-1823
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)