Special

HsaINT0102274 @ hg38

Intron Retention

Gene
Description
microfibrillar associated protein 4 [Source:HGNC Symbol;Acc:HGNC:7035]
Coordinates
chr17:19383442-19385281:-
Coord C1 exon
chr17:19385099-19385281
Coord A exon
chr17:19384710-19385098
Coord C2 exon
chr17:19383442-19384709
Length
389 bp
Sequences
Splice sites
5' ss Seq
CAGGTATAA
5' ss Score
7.46
3' ss Seq
ACCCTTCTCTCCTCTGCCAGGTG
3' ss Score
12.16
Exon sequences
Seq C1 exon
GGCTGCAGAACATGCACCTCCTGACACTGAAGCAGAAGTATGAGCTGCGAGTGGACTTGGAGGACTTTGAGAACAACACGGCCTATGCCAAGTACGCTGACTTCTCCATCTCCCCGAACGCGGTCAGCGCAGAGGAGGATGGCTACACCCTCTTTGTGGCAGGCTTTGAGGATGGCGGGGCAG
Seq A exon
GTATAACCCGCTGTTAGCTTTGGGAGGGGCTGTGAGGGGAAAGAAGGCAGGGCTGGCCCTGCCCAGTCAGCCCCAACCTCCTTCAGGCCCCTCCTTCAACCCTTCTGGATCTGGAAGGGCCACAGCTGGCTCCAAACAAGCTCAAACCAGCTTGGGCCTCAGCCCTGGGGAGCAGCCATCCTGGCCCTGCTCCAGGCAACTCTGTGGTGGAGCAGCTGTTTCTCTTCATTGCAGAAGCACATCAACCCAACATCTGGCTCAGGGAGGGTGCCCCCATCCCGCCAGGCTGCCACGTGATATCTCTCACAGTCGTCATTGTCACCCTCTCCCGGCCAGCTCGGGGCTCAGTTCCCTGCCTCAGCAGCCCCAACCCTTCTCTCCTCTGCCAG
Seq C2 exon
GTGACTCCCTGTCCTACCACAGTGGCCAGAAGTTCTCTACCTTCGACCGGGACCAGGACCTCTTTGTGCAGAACTGCGCAGCTCTCTCCTCAGGAGCCTTCTGGTTCCGCAGCTGCCACTTTGCCAACCTCAATGGCTTCTACCTAGGTGGCTCCCACCTCTCTTATGCCAATGGCATCAACTGGGCCCAGTGGAAGGGCTTCTACTACTCCCTCAAACGCACTGAGATGAAAATCCGCCGGGCCTGAAGGGCTGGCCCCCTCAGGCACCTTTCCTCCCCTGGACACCCATGGTCTCCATGAGTGCTCCCTCTGCTGCCCCTGATGCATGCTTCTGCTGATTCCCGAGCACCAACTCCTTACAAGGGGGCCTTGTGGCTCTCAGCCATGCCACATCCCTGTCACACACCCAGGGCATCCATTCCTAAGCCAGACCCGGCTCCCCTACACCTGAAGTTACACTGCCAGCAGTTCCCCAGGCCTCTTCCGAGAGGCACATGGTTCTAGCCTGGACCTGGCTGGGCTCCATGAGAATGAGTTGCCTCCAACCTGTCCCAACAGCTGACAGCCAGGAGCCACTCTCCCAGCTGCAGGCCTTTGTGGTCCATCTTGTCCTGCTTCCTCACTGTGGACCCCTGTCTGGGCCACCCTAGTGTGCTAAGCTGAGCAGTGCAGTGTGAACAGGGCCCATGGTGTATTCTAGGCCACAGCCCAGCACTCCTCTGGGCTGCTCTCAAACCATGTCCCATCTTCAGCATCCCTCCCACCAACTTACTCCCCTGTGGTGAGTACCGTGGAACCCCAGCCCACCTCACTATCATACTCAGCTTCCCCTGATGGCCCATCCCAGCCCCTGAAGCTCTATGCCAAGAACACAGCTACCGCACACCACCCTGAAACAGCCACAGCCAAGGTAGGCATGCATATGAGGTCTTCCCCATACCCTCTGGGTGTTGAGAGGTTTAGCCACATGAGGGAGCAGAGGACAATCTCTGCAGGGCTGGGAGTGGGTAGGGACTGAAGGTCTCAATAAACCTTCAGAACCTGAATGAACTGGCTTCATACACACAAACATATTTGTTTATCCCCCAAATGTAGGCACCTGGCTCCTCCTTGCTCCCCTGCTGATGGTGTCCTACCCCGAACTCCAAAAATTACACCTGGAGTCAGGTGCAGAAGGGAACCTTGTATTTCACAGGCCTCATTTTGATGGCAAAAAGACAGTGTAATAATAACATAATAATAATAAAAATATAATACTGAAAAGGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166482:ENST00000299610:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0014713=Fibrinogen_C=FE(27.9=100)
A:
NA
C2:
PF0014713=Fibrinogen_C=PD(37.0=97.6)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTTGTGGCAGGCTTTGAGGA
R:
AGAGGGAGCACTCATGGAGAC
Band lengths:
345-734
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