HsaINT0049794 @ hg38
Intron Retention
Gene
ENSG00000039139 | DNAH5
Description
dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950]
Coordinates
chr5:13752134-13753549:-
Coord C1 exon
chr5:13753233-13753549
Coord A exon
chr5:13752290-13753232
Coord C2 exon
chr5:13752134-13752289
Length
943 bp
Sequences
Splice sites
5' ss Seq
CAGGTAATT
5' ss Score
8.55
3' ss Seq
CCTTGTGATCCTGTTCCTAGATC
3' ss Score
9.23
Exon sequences
Seq C1 exon
GGGATGTACTGTTGGCTACAGCTTTTCTATCTTATTCTGGTCCATTTAACCAAGAGTTTCGTGATCTTCTGTTAAATGACTGGCGGAAGGAAATGAAAGCCCGGAAAATTCCATTTGGAAAGAACCTAAATCTCAGTGAGATGTTGATTGATGCTCCTACTATTAGTGAATGGAACCTCCAAGGTCTGCCAAATGATGACTTGTCCATTCAAAATGGAATTATTGTCACGAAGGCATCTCGTTACCCTTTGTTAATTGATCCACAGACTCAAGGCAAGATCTGGATTAAAAATAAAGAAAGCCGAAATGAACTCCAG
Seq A exon
GTAATTTGTGTTTTAGTATGTTTATGCTACCGGTTAAGTTTTATTGCCTCAGATAAACAAAAATCCAAGAGTAAAGAAATATTTGAAAACACTAGAGATGTTTTTGTAATCCTAGGTAGAGCAGTAGCAGATGCAAGCTTAAATCTAATATAAAAATATTTTCTAAAACTTTCATTATTTGCATTTGTGTTGATCTCTACCAATGCCATCTTTCAATGGTTTCAGGCTATTCTGTCAGGGTCCAGGGCTCTCTTTGATAAGTACAGAACGGCAGAGCTGTATCACACAAAGTGTGCAGCACTTTGCATGAATACTTCCTAATTATTACATTATTATTTGTCACAAAAGTGGTAGTGGTGAAGAAAAAACATTGTTCCCACACAGAGCCTTTACATGCTTCCCAATAAAACAAAATGATAGTTTGTTAAACAACAATGGAAACAGTTACACTTCTTTACAATTTCACCAAGTGTGGGTTTCAAAGCCAAGGATCTCTAAAAATCTATATGAAAGTTGAATGCCCCTTATCCTAAATACTTGGGATCCGAAGTGTTTCAGATTTTAGATTTTGGAATATTTGCATGTACATAATGAGATAACTTGAGGATGGGACCCAAGTCAGAACACGAAATTCATTTATGTTTCATATACACCTTCTTCATATATTTGAAGGTAATTTTATACAATATTTTAAACAATTTTATGCATGAAACAAAGTTTGTGTACATTCAACCATCAGAAAGCATAGGGGTCAGGTGTGGAATTTTCCACTGTGGGCATCATGTGGGCTCTCAACAAGTTTTGTATTTGGGAACATTTTGGATGCTCAATTTGTATTTGTCTCTTGCAGTAGAATGCTTTAGGCTTCATTTGAAAACAGTTATCCCTGTGCATTGCTTCATGGTAATGTCTGCCAATAGCAACCTTGTGATCCTGTTCCTAG
Seq C2 exon
ATCACGTCTTTAAATCACAAGTACTTCAGAAACCACCTGGAAGACAGCCTTTCTCTTGGAAGGCCTTTGCTTATTGAAGATGTTGGAGAGGAACTAGATCCAGCACTAGATAATGTTTTGGAAAGAAACTTCATTAAAACTGGGTCTACCTTTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000039139:ENST00000265104:63
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=PD(8.6=28.3),PF127812=AAA_9=PU(25.1=54.7)
A:
NA
C2:
PF127812=AAA_9=FE(22.1=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:
TGGCGGAAGGAAATGAAAGCC
R:
TGCTGGATCTAGTTCCTCTCCA
Band lengths:
342-1285
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