HsaINT1024914 @ hg38
Intron Retention
Gene
ENSG00000183072 | NKX2-5
Description
NK2 homeobox 5 [Source:HGNC Symbol;Acc:HGNC:2488]
Coordinates
chr5:173232109-173235357:-
Coord C1 exon
chr5:173234750-173235357
Coord A exon
chr5:173233210-173234749
Coord C2 exon
chr5:173232109-173233209
Length
1540 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
3' ss Seq
GCCTCTCTGTTCCCCCTCAGAGC
3' ss Score
11.07
Exon sequences
Seq C1 exon
TTTTTTTGCCGTATGACTATATTAGGTGACACGAAACTGCTCATCGCTCCTGTCATCGAGGCCCCTGGCCCAATGGCAGGCTGAGTCCCCCTCCTCTGGCCTGGTCCCGCCTCTCCTGCCCCTTGTGCTCAGCGCTACCTGCTGCCCGGACACATCCAGAGCTGGCCGACGGGTGCGCGGGCGGGCGGCGGCACCATGCAGGGAAGCTGCCAGGGGCCGTGGGCAGCGCCGCTTTCTGCCGCCCACCTGGCGCTGTGAGACTGGCGCTGCCACCATGTTCCCCAGCCCTGCTCTCACGCCCACGCCCTTCTCAGTCAAAGACATCCTAAACCTGGAACAGCAGCAGCGCAGCCTGGCTGCCGCCGGAGAGCTCTCTGCCCGCCTGGAGGCGACCCTGGCGCCCTCCTCCTGCATGCTGGCCGCCTTCAAGCCAGAGGCCTACGCTGGGCCCGAGGCGGCTGCGCCGGGCCTCCCAGAGCTGCGCGCAGAGCTGGGCCGCGCGCCTTCACCGGCCAAGTGTGCGTCTGCCTTTCCCGCCGCCCCCGCCTTCTATCCACGTGCCTACAGCGACCCCGACCCAGCCAAGGACCCTAGAGCCGAAAAGAAAG
Seq A exon
GTGAGGAGGAAACACAGGCCCCCTTCTCCCCTCCTGGGTCGCTTTCGTCCCCAAGAAACTCAGGGCCAGGAGGAGGAGACACGCGCCCTTGGGCCGAGGGCTGGGCTGCGGCGGGGGGTTCAGAATGTAAGATGCCTGGTGTTGTCGCCAGGCTCCCGCGCCCCGCGTCCAATCGGAGGTTCAGAGGAAATGCCGGATTGAAAGGATCAGAAGCAAGAGACCAAAAAACGTTTCCCCCCGGCCTAACAAAGCCCCGGGCGGCTTCGGCTCTGCTCCTGGGTCTGGTAGGAAGTTGAGAAATCGGTTTATGGTAGACAGAACAGAGAGACAAGCAGATAATCTCTGTTTTTAAATCTCCTTTGGATTTACGAATCTTTTTAAAGATCTGATGAGAACCGCTAAACAGAAATTGAAATGTTGCTCACCAGACAGCTTTTGCGTACAATCGGAGGAGGGTCCTGGACCTTCTTTCTGCAGCCCACCCACGACCCGGGTTTCTGGTGCCTTTCTTTCTTTGCGCCAGGAAAGTGGAGTCTGGGATCGAGGGCCTTGATTTTAAAATGGGATACTGCGGACCCTCAGGAATCTGACTTCACTTTATTTTTTCAGCACAACTTGCCGGCGCGGCCAGGGCGGAGAGGTTCCCTCGTGGAAAAGTTAGGAAATGCTGCGCTACCGCGGGCACAAGGGAGTGGACGAGATGAGTGCGGGATCATCCCGCAGGCCATCCCAGGATCGGGGAGGGAGGCCGGCCCCGCTGCAGAAAGGGGCCTTCTGGGAGACCCCCCAGCCCAAGGCAGGAGCCCGGGCGATTCCCGGGAGGCCGCAGGCGCTGGGCGAAGCGCTGGGCGAAGGGCCGCTGCCAGCCGGGAGAGAATTCATAGGTTTGTTGAGGAGCAGAGGCCTGGGAACAAATTCGGGCGGGCACGGCGGCTAGAACTGATCGCTACCAATTCGAGGAAGCCAGCAAGGCAGGTTCCGAGGCCGCCTGCCCACCCGCAGCTTCTTGGACACTGCGCAAACCCTGCTGCGGCCAGGCTGGAGCCTCCGATCACCAAACCAACACTCCCTGGCCTTCTGTTTCTTGATTCCTTAATTTTGAGATAAGACCGTCCCTAGCAGTGAGGCCTCGGCCTCTGTTCATTTAACTTCTCAAACCAAACTAGCCCTAATTCAGTTCACCCCAGAGCATCACCTGGTTTTATTTTTATTTTTTTATTTTTTTATTTATTTTTTTTTTTTTTGCAGCCTGAAATTTTAAGTCACCGTCTGTCTCCCTCACCAGGGTGTGAACTGCCCCGAGGGCAGAGACCTCCCGTTTTGTTCTCCAGCGCCTTGAGCCAGCCTGACTTTCTACAAATGCTGAGTGAGACGTGTCGGTGGCTCCCAGTGCACTTGGCAGAGTGAGCCGCAGCCAGCTGGGCGCTCCAGGCAGGACACAGTGGCCTCCACGAGGATCCCTTACCATTACTGTGCGGCCGCGCTCCGTAGGTCAAGCCGCTCTTACCAAGCGTCTCTCTGCCTCTCTGTTCCCCCTCAG
Seq C2 exon
AGCTGTGCGCGCTGCAGAAGGCGGTGGAGCTGGAGAAGACAGAGGCGGACAACGCGGAGCGGCCCCGGGCGCGACGGCGGAGGAAGCCGCGCGTGCTCTTCTCGCAGGCGCAGGTCTATGAGCTGGAGCGGCGCTTCAAGCAGCAGCGGTACCTGTCGGCCCCCGAACGCGACCAGCTGGCCAGCGTGCTGAAACTCACGTCCACGCAGGTCAAGATCTGGTTCCAGAACCGGCGCTACAAGTGCAAGCGGCAGCGGCAGGACCAGACTCTGGAGCTGGTGGGGCTGCCCCCGCCGCCGCCGCCGCCTGCCCGCAGGATCGCGGTGCCAGTGCTGGTGCGCGATGGCAAGCCATGCCTAGGGGACTCGGCGCCCTACGCGCCTGCCTACGGCGTGGGCCTCAATCCCTACGGTTATAACGCCTACCCCGCCTATCCGGGTTACGGCGGCGCGGCCTGCAGCCCTGGCTACAGCTGCACTGCCGCTTACCCCGCCGGGCCTTCCCCAGCGCAGCCGGCCACTGCCGCCGCCAACAACAACTTCGTGAACTTCGGCGTCGGGGACTTGAATGCGGTTCAGAGCCCCGGGATTCCGCAGAGCAACTCGGGAGTGTCCACGCTGCATGGTATCCGAGCCTGGTAGGGAAGGGACCCGCGTGGCGCGACCCTGACCGATCCCACCTCAACAGCTCCCTGACTCTCGGGGGGAGAAGGGGCTCCCAACATGACCCTGAGTCCCCTGGATTTTGCATTCACTCCTGCGGAGACCTAGGAACTTTTTCTGTCCCACGCGCGTTTGTTCTTGCGCACGGGAGAGTTTGTGGCGGCGATTATGCAGCGTGCAATGAGTGATCCTGCAGCCTGGTGTCTTAGCTGTCCCCCCAGGAGTGCCCTCCGAGAGTCCATGGGCACCCCCGGTTGGAACTGGGACTGAGCTCGGGCACGCAGGGCCTGAGATCTGGCCGCCCATTCCGCGAGCCAGGGCCGGGCGCCCGGGCCTTTGCTATCTCGCCGTCGCCCGCCCACGCACCCACCCGTATTTATGTTTTTACCTATTGCTGTAAGAAATGACGATCCCCTTCCCATTAAAGAGAGTGCGTTGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183072:ENST00000329198:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.368 A=NA C2=0.216
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0004624=Homeobox=WD(100=26.6)
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:
CCACGCCCTTCTCAGTCAAAG
R:
CCTCTGTCTTCTCCAGCTCCA
Band lengths:
354-1894
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains