Special

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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Conservation
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