Special

HsaINT0040550 @ hg38

Intron Retention

Gene
ENSG00000160111 | CPAMD8
Description
C3 and PZP like, alpha-2-macroglobulin domain containing 8 [Source:HGNC Symbol;Acc:HGNC:23228]
Coordinates
chr19:16896456-16897801:-
Coord C1 exon
chr19:16897691-16897801
Coord A exon
chr19:16896666-16897690
Coord C2 exon
chr19:16896456-16896665
Length
1025 bp
Sequences
Splice sites
5' ss Seq
CGGGTGAGT
5' ss Score
9.89
3' ss Seq
GAGCCTGCCTCGTCCCCCAGGCT
3' ss Score
7.3
Exon sequences
Seq C1 exon
CCTTCGAGGCCACTCGCTTCTACAACGTCAGCACCCACAGCCCACTCGCCCGGGAACTGTGCGCCGGACCCGCGTGCAACGAAGTGGAGCGCGCCCCTGCCCGGGGCCCGG
Seq A exon
GTGAGTGCGCGGAGCCACTGCCGCCCCCCACCGCGGCCTGCCACACCCCGACTCCCACCCTCGGACGCCAGGGAGGGCTCCCCTGGGGGCTTGGCAGAGGAGGGGCCAACGTAAAGTCAGGAGAACGCAGCATAGAGGTGGGCGGGCGCTCTGCCTGTACGGGGGAGGCGGGGCTGGAGGAGCGGTCAGCGGGGAGGGGCGTGGCTGGGGGAGTGGTAAGTGCGGAAGGGAAGTGGCTGGGGAATGGTCAGTATACTGGGGGCAGGGCCGAGCCAGTGAGGGTGTGGTCACTGTGGTGGGGACTGGGCGCAATGGGTTGAGGGTGGTCAGTGTGGTGAGGGCGGGGTCGAGCGGCGAGGGGGAGGTGAGTGCGGAGGGTGCGGGGTTGAGGGCGGGTGTGTTCAGTGCGGGGGGCGGGGCCGAACGGGGTGGGTGTGGTCAGTGCGAAGGGGACGGGGTTGAGAGTGGATGTGGTTAGTGCTGAGGGGATGAGGTTGCGGTGGGTGTGGTCAGTGCGGGGGGCGGGGTCGAGGGTGGGTGCGGTCAGCGCTGAGGGGCGGGATTTGTGGTGGGTGTGGTCAGTGCGGAGGGGGCGGGGTTAAGAGTGGTCAGGACGGAGGGGGCGGGGTTGAGGGTAGGTGTGGTCACCGCGGAGGGGGCGGGGTTGAGGATAGGAGCGGTCAGTGCGGTGGGGGTGGGGTTGGGGTGGGTGTGGTCAGTGCGGAGGAGGCGCGGCAGGGGACGGGGCTGTTGTTGCAGGGCGGCCCAGACAGGACGCCCTGTCTCCTTTCTCTCCTACAACCGCTTTTTAAAAGTCTGTTTCTGTTTTTGTAAGTATTAGGCAAATACCTGCGTGAAATTCCATAAGGCCAGGGCTCAGGACCTCCCATTAACTGTCGCGCCCCAAGACCCACCGAGGGGGTAGTGGGCCCGGGACCCAGGGACATCTTCCCCACCCCCAGGTTCTGTGGGGGCGCGGGCAAGGTTCAGGGTGGGGGGTCTGTCGAGCCTGCCTCGTCCCCCAG
Seq C2 exon
GCTGGTTCCCCGGCGAGTCGGGCCCTGCCGTGGCCCCTGAGGAGGGGGCGGCGATCGCGCGATGCGGCTGCGACCACGACTGCGGCGCCCAGGGGAACCCGGTGTGCGGCTCCGACGGGGTGGTCTACGCCAGCGCCTGCCGCCTGCGGGAGGCCGCCTGCCGCCAGGCCGCGCCCCTGGAGCCCGCGCCTCCCAGCTGCTGCGCCCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160111:ENST00000443236:39
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.040 A=NA C2=0.095
Domain overlap (PFAM):

C1:
PF076779=A2M_recep=PD(10.3=18.4)
A:
NA
C2:
PF0764810=Kazal_2=WD(100=57.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGGCCACTCGCTTCTACAAC
R:
CTGGCGTAGACCACCCCG
Band lengths:
239-1264
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