Special

HsaINT0098618 @ hg38

Intron Retention

Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:HGNC:24083]
Coordinates
chr9:136856464-136857041:+
Coord C1 exon
chr9:136856464-136856826
Coord A exon
chr9:136856827-136856906
Coord C2 exon
chr9:136856907-136857041
Length
80 bp
Sequences
Splice sites
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
3' ss Seq
CAGCCCCATGCCCCCTGCAGGCC
3' ss Score
6.97
Exon sequences
Seq C1 exon
CTGGAGTTTGTCGGTTTGGTGGACTTGGATGGCCCTGACCAGCAGGGAGCTGGGGTGGACAACGTGACCCTGAGGGACTGTAGCCCCACAGTGACCACCGAGAGAGACAGAGGTTCCTGCTGCCCATCCTCACTCCCACCTGGGTGCTCCCCTTACACTCCTCCAGGGACCCCGGAGCTTCCACCTTCTCAGGGCTCTGGAGGGGGAGGGGAGAAGGTGTGTGACGCCACCTGGCCCCACCCCCAGAGGTCTCCTGTAACTTTGAGCGGGACACATGCAGCTGGTACCCAGGCCACCTCTCAGACACACACTGGCGCTGGGTGGAGAGCCGCGGCCCTGACCACGACCACACCACAGGCCAAG
Seq A exon
GTAGGATGGGCGCTCAGACCGGGGGTGGCTTTCAGACGAGAGTGGGGCATCTCTGCAGCACAGCCCCATGCCCCCTGCAG
Seq C2 exon
GCCACTTTGTGCTCCTGGACCCCACAGACCCCCTGGCCTGGGGCCACAGTGCCCACCTGCTCTCCAGGCCCCAGGTGCCAGCAGCACCCACGGAGTGTCTCAGCTTCTGGTACCACCTCCATGGGCCCCAGATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177943:ENST00000485732:14
Average complexity
IR
Mappability confidence:
NA
Protein Impact

In the CDS, with uncertain impact

No structure available
Features
Disorder rate (Iupred):
  C1=0.288 A=NA C2=0.073
Domain overlap (PFAM):

C1:
PF0062918=MAM=PD(18.4=73.7)
A:
NA
C2:
PF0062918=MAM=FE(29.2=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACCTCTCAGACACACACTGG
R:
CAGAAGCTGAGACACTCCGTG
Band lengths:
179-259
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