Special

HsaINT0098630 @ hg38

Intron Retention

Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:HGNC:24083]
Coordinates
chr9:136859886-136860799:+
Coord C1 exon
chr9:136859886-136860064
Coord A exon
chr9:136860065-136860561
Coord C2 exon
chr9:136860562-136860799
Length
497 bp
Sequences
Splice sites
5' ss Seq
GCGGTAGGA
5' ss Score
6.86
3' ss Seq
GCTCCTCTTCCTCCTCCTAGGAT
3' ss Score
10.81
Exon sequences
Seq C1 exon
GGAACACAGCCGCACCCGGGTCTGTGCCAGCTGTGGTTGGCAGTGCCCTCCTATTGCTCATGCTCCTGGTGCTGCTGGGACTTGGGGGACGGCGCTGGCTGCAGAAGAAGGGGAGCTGCCCCTTCCAGAGCAACACAGAGGCCACAGCCCCTGGCTTTGACAACATCCTTTTCAATGCG
Seq A exon
GTAGGAGCCCCTGGGGATGGGTGGGCAGGAGCCTCTGTGCTCAGCTGTGACGCTGGAGGGCGGGCAGTGGCGGGACACAACCCCCCGGGGAGGAGCCCCCACCTGTGCAAGGCCCATCCTTGCCCTCCCTGCCCTGCCTCTCCCAGCCACCACTGTCAAAGCTCCTCCTCCTTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGATTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCAACTAAAACTAGAAAAAATTAGCTGGGTATGGTGGCAGGAACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGCAGGGGTTGCAGTGAGCGAAGATCGTGCCATTGCACTCCATCCTGGTTGACAAGAGCGAAACTCCGTCTCAGGAAAGAAAGAAAAAAAAAGCTCCTCTTCCTCCTCCTAG
Seq C2 exon
GATGGTGTCACCCTCCCGGCATCTGTCACCAGTGATCCGTAGACCACCCCAGACAAGGCCCCGCTTCCTCACGTGACATCCAGCACTTGGTCAGACCCTAGCCAGGGACCGGACACCTGCCCCGCCCAGGCTGGGACAGGCTGCAGGTCTCAGGATATGCTGAGGCCTGGGCGTTCCCTGCCCTGTGCTGACTCTGTTGCTCTGTGAATAAACACCCTGGCCCATGAGGGCAGCCCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177943:ENST00000485732:24
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.117 A=NA C2=0.308
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCCTCCTATTGCTCATGCTC
R:
GGGCCAGGGTGTTTATTCACA
Band lengths:
358-855
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