Special

HsaINT0020749 @ hg19

Intron Retention

Gene
ENSG00000156030 | C14orf43
Description
chromosome 14 open reading frame 43 [Source:HGNC Symbol;Acc:19853]
Coordinates
chr14:74193533-74194227:-
Coord C1 exon
chr14:74194161-74194227
Coord A exon
chr14:74193676-74194160
Coord C2 exon
chr14:74193533-74193675
Length
485 bp
Sequences
Splice sites
5' ss Seq
GCCGTAAGT
5' ss Score
10.11
3' ss Seq
TGCCCTTTTCACTCCTCTAGACG
3' ss Score
10.15
Exon sequences
Seq C1 exon
ACAGTGCTGAAGTAACCCCGCCTGTCCTCTCTGTGATGGGGGAGGCCACCCCAGTGAGCATCGAGCC
Seq A exon
GTAAGTGCAGCCCTGCCCCTGGCCGAGGGGTGTGGGTGGCCACACTGGTGCAGTGTGTGCAGGTGGGCCCTGGGAGCAACAGGAGGGTTCCGTGGGGCCTGCAGAGGGCTGAGAGGGCCTCCTTGAGCTTCTGTATGTGGCCCTGGGCTTTGCTGTCCCCGCCCTGCCTCTGTGTGGAAGTTGCAGGGAAGGGCAAGGACCGGCTCAGCTTGAACTTATCTCTAGGAGAGTTGAAAGGGGGGTCCAGAGGCTCTTTCCCATCTGTAAACCTGCAGCTGCTTCTCCCCTCTCCAGCCTCTGGACCTTGCCTTTCTGGTGGTGCCAGGTCAGGCTGTCCTCCCAAGCCCCTAGAAGCCAGACTCCCTACACCTAGCTGAGGCCTTGCTCTGCCGGCTCCCCCTCATCTTCTTCCCACCCTGAGGGATCATCAAGTTCTCCGTCCCCGCAAGGTGAGGCCTCACTTCCTGCCCTTTTCACTCCTCTAG
Seq C2 exon
ACGGATCAACGTGGGCTCCCGGTTCCAGGCAGAAATCCCCTTGATGAGGGACCGTGCCCTGGCAGCTGCAGATCCCCACAAGGCTGACTTGGTGTGGCAGCCATGGGAGGACCTAGAGAGCAGCCGGGAGAAGCAGAGGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000156030-C14orf43:NM_001043318:5
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.217 A=NA C2=0.061
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0144819=ELM2=PU(79.3=93.9)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGTGCTGAAGTAACCCCGC
R:
CTTGCCTCTGCTTCTCCCG
Band lengths:
209-694
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development