HsaINT1011571 @ hg38
Intron Retention
Gene
ENSG00000118997 | DNAH7
Description
dynein axonemal heavy chain 7 [Source:HGNC Symbol;Acc:HGNC:18661]
Coordinates
chr2:195857377-195858804:-
Coord C1 exon
chr2:195858474-195858804
Coord A exon
chr2:195857724-195858473
Coord C2 exon
chr2:195857377-195857723
Length
750 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
3' ss Seq
ATTAACGTTGTTATTTCAAGGAT
3' ss Score
6.42
Exon sequences
Seq C1 exon
TGAAGTAATGAAAATGAAAAAGAGATATGAAGTGGGTTTGGAGAAACTGGATTCTGCTTCATCTCAAGTAGCCACAATGCAGATGGAGTTGGAGGCACTACATCCTCAATTAAAAGTTGCTAGCAAAGAGGTTGATGAAATGATGATAATGATTGAGAAAGAGTCTGTAGAAGTTGCCAAAACTGAAAAAATAGTGAAAGCTGATGAAACAATAGCGAATGAACAAGCTATGGCTTCCAAAGCCATCAAAGATGAGTGCGATGCTGACCTGGCAGGTGCCTTGCCAATATTAGAGTCAGCACTGGCCGCCCTTGATACTCTTACTGCACAG
Seq A exon
GTAAGAGCTTCGCCATACACTTTCTAGGACACATGTCATCATAGCCCAAGAAAGAAATTAGCATTGTGTTCTAGTCTAGTTTGTCTCTCCGAATTAGCCTGAAATTTTAATGAAGCTGAAATCATTTTGAAATTGGCAAAAGAATTCCCTAATTGACTTGAAAAAGAAATGCATGTGCATGCAAAAACACCTTTGAAATGGAAGAAAGCGGCCAGATGTTATAGCCTACCATAAAGCAACAGTTATTTCAAGAACTTCATACATCTTTGCACTGCAGTAATCAACAAAGACATAAGCTTTGAGATTATATTTTGATTCTAAGGGGTACCTTTTTCATATTTAGACACACTTGTCATTGGAATACATCTTATAGAGCATGTGATAAAGTATTAATTTTGCCAGTGATTTTTTTTGGGGGGATACATAAAATAATAATGTGTTTTATAATAATTTATTTTACAATAGCAATGTCTTAGATTTCATGAGGTGTATTAAAAGTTAAGATGTGAAAGGGGAATATTTTAATTTAGAAAGATGAAGATAGATTTTTAAAATAAATAGTGCAGAGAATTTTGGCTAAACTTTTGGGTGGGACTGAGGAGAAAAGTGTAAGTGCAGTTCTATTACTGTCACCATTTCTACCCAGTGAACACAGTGAGTTTCTGTATGCTTAGTTTGAAAATAGGAACCACTTACAATTACTGTATAAACAAACATGTCTTTTAAAATAATTAACGTTGTTATTTCAAG
Seq C2 exon
GATATTACAGTGGTAAAATCCATGAAGAGTCCTCCTGCTGGTGTCAAGCTTGTTATGGAAGCTATATGCATCTTGAAAGGAATCAAAGCTGACAAAATCCCTGACCCAACAGGTTCAGGGAAAAAAATTGAGGATTTCTGGGGCCCAGCTAAGAGACTTCTTGGTGACATGAGGTTTCTGCAGTCACTTCATGAATATGACAAGGACAATATTCCTCCAGCTTATATGAATATCATAAGAAAAAATTATATTCCAAATCCAGATTTTGTACCAGAAAAAATCAGAAATGCTTCTACAGCGGCCGAAGGTCTGTGCAAATGGGTCATAGCAATGGATTCATATGATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997:ENST00000312428:43
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=0.000
Domain overlap (PFAM):
C1:
PF127772=MT=PU(29.3=92.8)
A:
NA
C2:
PF127772=MT=FE(32.8=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGCCGCCCTTGATACTCTTA
R:
ACCCATTTGCACAGACCTTCG
Band lengths:
352-1102
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains