HsaINT0049924 @ hg38
Intron Retention
Gene
ENSG00000118997 | DNAH7
Description
dynein axonemal heavy chain 7 [Source:HGNC Symbol;Acc:HGNC:18661]
Coordinates
chr2:195861717-195865021:-
Coord C1 exon
chr2:195864149-195865021
Coord A exon
chr2:195861947-195864148
Coord C2 exon
chr2:195861717-195861946
Length
2202 bp
Sequences
Splice sites
5' ss Seq
CAGGTATTG
5' ss Score
8.35
3' ss Seq
AGCATTTATCTTACATTTAGTCA
3' ss Score
3.5
Exon sequences
Seq C1 exon
GTCCTTCGAGTGTATTATGACCGCCTTCTGGACAATACAGACAGAAGCTGGCTCATCAACTACATTCAAGAAATTTTGAGAAACTACATGTATGAAGATTTTCATGAGCTTTTTCAGCGTTTGGATTTTGATAATGATGGCATGGTGGAAGCAGATGACTTACGCAGCTTAATGTTTTGTGATTTCCATGATCCCAAGAGGGAGGATACCAACTACAGAGAAATCGCAGATGTGGATAATCTTCGAATGATAGTAGAAATTCACCTAGAAGAATACAACAATATAAGCAAAAAACCCATGAACCTTGTCTTGTTTCGATTTGCCATAGAGCACATCAGCAGAATTTCCAGGATCCTGAAGCAGCCTCGCAGCCATGCTCTCCTAGTAGGGGTTGGAGGGAGTGGAAGGCAGTCTGTCACCAGATTAGCTGCCCACATGGCTGATTATTCAGTTTTCCAAGTTGAAATCTCTAAGGGGTATGATACTACTGAATGGCATGAAGATTTAAAAGTGATCTTAAGGAAATGTGCGGAAGGTGAGATGCAGGGTGTCTTCCTGTTTACAGATACTCAAATTAAAGAAGAGTCTTTTCTGGAAGATGTCAGTAATCTGCTAAATGCTGGGGAGATTCCAAATCTCTTTGCATTAGATGAGAAGCAAGAGATATGTGATAAGATGCGTCAGTTAGATCGCCAGCGGGATAAAACCAAGCAAACAGATGGCAGCCCCATAGCCCTTTTCAACATGTTTATTGATCATTGCCGCAGCCAACTGCATGTGGTCCTTGCCATGAGTCCCATTGGAGATGCATTTCGGAATCGTCTTAGAAAGTTCCCTGCTCTTGTTAACTGCTGTACCATTGACTGGTTTCAG
Seq A exon
GTATTGTCATGTACATTTTAGATAGACTTCTAGAAATGTTGAATTTCCACTATCATCATGACTTATTTTATAGATTCCCAACCTGTAGTTTACCCCAAAATATTGTTTAGCAGAATCTTCTGATCAGTTATATCTTATGAAATTATAATTCAAGAAATTATAATAGAAAAGTATTTATTAAGAATATATGTGATCACTAACTTCAATATATTATAGGAAGTGTTATGATAAAATTGTGTATCAGAGTCCTGACAGGAAGCACAGAGCAACCTTGAACCCTTCACCGAAGAAAGCATAATGAAGGAACTGTTCACAGAGGGGTAGGCAGGGTTAAGGGAACCAAGAGGGGATGTTGGAACACTCAGGAAGTGGTAGGTGGAGCAATAGCAGGAAGTGTTACTATAACCGTGTATGAAAGTCAGAGCTTAGAGCTGTGGATATAAGACTGCCCAACAGGAATAGGAACCAGAAACGTAGAACTCAGCTACGGCTGGAAAGGAAGGGAGGATCAAAATACCCCTGTGTCTCACTTCTTCCACCCTGCCCCCAATCTCTTCCCATTAGCTAAACCCAAAGGAGTTAAGAGCGAGAAAGCCAGAGTGACCTTTTTTTCTGTGGACTTCAGTACTGGGAAGTACAGAGCAGAGCAGAAAAAGGCAGCGAATGGATGGGGGGTAGGAACGAGGGGTGGGGAAGGGGAGTAGCAAAGGAAGAGTAACTAGCTAGATGTGAATAGTAATTTAATTCTCCCTTCTGGCTTTAACAGCATATCACAATGCATTCTCTACCTGTGTGGTAAAAAATCTGTGGGCTGTGACTGAGATCCCGTGAGTGGGTTTTGACAGATAAGCATTTATGACCTTGGAAAGTTTACAGAACCTCTCTGTATCTCTACTTCCTGGTAAAATTAATTATTTCATGCAAAACATTTATTGAATTCTGTTTTGCTTTGTAGCAAGTCTTAATCTAAAAGCTGGAGATGAAGCACATGAAATAGACAAGACCTCTGCTCTCCTTGAGCTTCTTGTCTACAGACAAATAAGCAAAACACAATTTCATCAGACAGGGTAGCAAATAGGGAGTAAATGCTTTGTTGTTGTGTTTGTTGTTTTGAGATGCAGTCTCACTCTTGTCACCCTGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATTCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTAAATACTTTTTAAATAAGGGACCAATTAAGGGTTTGAAGAGGAAACTGGAAAGACAAAAAAGTGTCAGTATTGAGATCTGAGCAGAGAGGATAAACTAGTGAAGTCAAGTGTCTAGACAGAAGGAAGGAGAGGGTGACAGAAAATCAGGGTGACAGGAGCACAGGAACTGTGGGGGGAAGTGGTATAACAGTTCAGAAATGTGGGAAGGGTCAAATCAGTTAGAGATTGGCAAGTTGGTTCGGATTTTAAGAATTCTAGGAAGTCTTTGGTTATAAATTGGGGAGTGTGACATGAGCTGATTTATATTTTGAAAAGCTCACTCTTGCAGCTATGTAGAGAATGCAAGCAGTTTGGATGCTACTGGAATCTTCCAGGCAGATGATAGTGGAGGCTTGAATTGGGATGATTGAGGTAGACAAAGAAAGAAGAGAGGATTTGGAAGCTATTTCAGGAATAATGCCTACATCATTCTCAGGGAAATGTTAGGAGAATTAAATGAGATAATACCAGTAAAATGCATACAGAAATAGACATTCCATAAATTTAGTTCATTTGCCTTTCCTTTCTCCTGCAACACTCATGAACAATTTCTCTAATCTCAGAACAAACCACACACAGTGAATGTTATATGCACTAACTAGCTCCTGGCTCCCTCCCCTAAGTATGCAAGTCCTCGGGAAAGTTTCTTATGAAATTGTCTCTCCCACACCATCCCTCACACTATTCCCCTTCACCCCCAACATCCATAAGTTGTAAAGGGCTGCAGTAGTAGCAGATCCAGATTCGTAATCTTAATAAAATGCTAAAGCATTTATCTTACATTTAG
Seq C2 exon
TCATGGCCTGAAGATGCACTCCAGGCAGTTGCCTCACGATTCTTGGAAGAAATTGAAATGTCAGAGGAAATACGAGATGGCTGTATCGACATGTGTAAAAGCTTCCACACTTCTACTATAGATTTATCCAAATCTTTCTTTGTTGAACTTCAAAGATACAATTATGTGACTCCTACCTCTTACCTCGAATTAATCTCCACCTTCAAACTGTTGTTAGAAAAGAAAAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118997:ENST00000312428:41
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.024 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF127802=AAA_8=PU(73.2=68.4)
A:
NA
C2:
PF127802=AAA_8=PD(26.1=92.2)
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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