HsaINT0049927 @ hg19
Intron Retention
Gene
ENSG00000118997 | DNAH7
Description
dynein, axonemal, heavy chain 7 [Source:HGNC Symbol;Acc:18661]
Coordinates
chr2:196720535-196722447:-
Coord C1 exon
chr2:196722101-196722447
Coord A exon
chr2:196720716-196722100
Coord C2 exon
chr2:196720535-196720715
Length
1385 bp
Sequences
Splice sites
5' ss Seq
TAAGTAAGT
5' ss Score
8.07
3' ss Seq
TTCAATTTTACTTTTTGCAGAGT
3' ss Score
7.63
Exon sequences
Seq C1 exon
GATATTACAGTGGTAAAATCCATGAAGAGTCCTCCTGCTGGTGTCAAGCTTGTTATGGAAGCTATATGCATCTTGAAAGGAATCAAAGCTGACAAAATCCCTGACCCAACAGGTTCAGGGAAAAAAATTGAGGATTTCTGGGGCCCAGCTAAGAGACTTCTTGGTGACATGAGGTTTCTGCAGTCACTTCATGAATATGACAAGGACAATATTCCTCCAGCTTATATGAATATCATAAGAAAAAATTATATTCCAAATCCAGATTTTGTACCAGAAAAAATCAGAAATGCTTCTACAGCGGCCGAAGGTCTGTGCAAATGGGTCATAGCAATGGATTCATATGATAA
Seq A exon
GTAAGTGCTGATAAAAAGAAATCCAGCTGGTATGGTCTGTCTTCACTTCTGGTCAGTTAGAAAATATACAATTTAAAAGTTATGTAAGTGAGAGGCTCCTTGGAAAATCCTGTCTGAATTTGCTTTGTGTTTGCATATTTACTGGAGGCAAGATTATGCCAACTAATAGTATAATACAGTGGTTCTTAAACTTTTTGGACTCAGGAACTGTTTATACTCTTAAAAAGTATTGAAGACCCCAATAAAATTTTGTTTATTTACCATATTAGAAATTAAAATGGAAAAATTTTAAAAATGTTTATTAATTCATCTTAAAAAGCAATAAAAATGTTACATGTTAATACAAGTGATTTATTTTTATTTTTTATAAATTTACATGTTTTTCTTTTAAAAATAGAAAAAAATACTGATGAGAAGAGTGGTATTTTATTATACTTTTACAAATCTCTTTAATGTGTGGTTTAATGTGAGATAGCCAGACACCAAAATCTGCTTCTTCATTCATTCTGTTGCAATATGTTGTTTTAATTAAAGTATATTAAAAAAAAATCCACCATCACACAGAGGTTTAGTTGGACGAGGGAAGACCTCGTGAGCTCCCCAAAGGGGCAAGTGTCGTCAGGATCCCCAGGGGTCCTTGGACCACACTTTAAAAACCACTGGCATAATGTATTCTTGTGAAATAAGGAGCCTTTTTTGGTGATTATATGAGAACTAGTTATATCATACGCAAAACAGGGTAATTATTATTTTTTCAAAAAACAACTGTCATAGGATGTTTTTCAAACTCATATCCAATTTTAATCATTCTATATATATAGTAGTGCTATATATGTTTCAGACCATGATATTAGTTAATGATTAATTTAATGTTTGTTAGATAACATGACTGACTCCATTTTCCAGATACTAGGGAGAGAATTTAGATCCATCCTTTTTCCTATATAATTCCTTTTATTACCACATACGTATTTATAGGATAACTGTTTTTGGTTGATGTATTCTAGGATTTTTTTAAGTAAAATGACAAAGATAAAAGATACCTCACTTTCTCATGAAAACTCACCTTTAACCAATTAGGCTTCTAATAACATTGTAATATTCTACATGACTATCCTACTCTCCTTTTGGAAAGTTATCAAAATTCATACTGGCAAAATGTTTTTTGTATATTTGATGTCTATTTTAATAAAAGGCCATTTCTTGTGTCCAGGATCAAGTTTGGATGATTGTTAGATGAAACAGGAAATATGGAAATCGGTTTAGATTTTTGCATAAAGAAGTGTTTTCAGTTATAGTAAGGGTATTAGAAAAGTAAATTCAGTGATAGAAAGTGTACTGGAATATTAAATGAATATTTAATTTTTCAATTTTACTTTTTGCAG
Seq C2 exon
AGTGGCAAAAATAGTAGCTCCCAAAAAGATAAAACTGGCTGCAGCTGAAGGGGAGCTTAAAATTGCCATGGATGGTCTTAGAAAGAAGCAGGCAGCCCTTAAGGAAGTTCAGGACAAGCTGGCCAGGCTTCAAGACACACTTGAATTAAATAAACAAAAGAAGGCTGACCTGGAAAACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997-DNAH7:NM_018897:44
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:
PF127772=MT=FE(32.8=100)
A:
NA
C2:
PF127772=MT=FE(17.1=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGCCCAGCTAAGAGACTTCT
R:
AAGTGTGTCTTGAAGCCTGGC
Band lengths:
349-1734
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
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)