Special

HsaINT0105979 @ hg38

Intron Retention

Gene
Description
metal response element binding transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:29535]
Coordinates
chr1:93119333-93120672:+
Coord C1 exon
chr1:93119333-93119401
Coord A exon
chr1:93119402-93120548
Coord C2 exon
chr1:93120549-93120672
Length
1147 bp
Sequences
Splice sites
5' ss Seq
GTGGTAAGT
5' ss Score
10.36
3' ss Seq
TGATTATTTTCGGATTCCAGGGT
3' ss Score
6.38
Exon sequences
Seq C1 exon
ATTTTATACGTTTATATGCTCTGTCTGCAGTTCTGGACCAGAATACCTCAAACGTCTACCATTACAGTG
Seq A exon
GTAAGTGTGGACCTTTCTGTTAAAAGAAAGAAAAGCCATTTTCTTAAACCTACAAGTTGAAACTTTCTATATACATTTACTTGGCTTAAGTAAAAATAGGTTATTTATGCTTGGCTTTATTTCTTTTATTTATCCTCATGCCTGATGTCATCTTCACTAAGTAACATCCACTTGTATTGCTAAATTAATAAGGCTGTTCAGTGTTGAATGTTATAAATGAAACTTTCAGATATCCTTTAGACCTAAATTCTTACTCATATTTCTAGTTCTTTTGAACATTCAGAATACCATACAGTAGAAGAGAGATAGGTATAACAAATATGCTAATTTCTGCTTCAATGTAGTAATTCTTGTGTGTTGGAAGTGTGATGAATTTTAGAGGTTTACTAATAAAATGCTTACAGTAAGTACTTACAAATCTTTGTTGTATTTTACATATTTTATCAACAGATAGGATTTAACCCATGAATCAAATAGTTTGGTTAAGTATGGTATATTCTGTAGCTTATATCCGGAAGTGAAAACACAAAAATCTTGATTTTAAGTTATATTTTTTTAAAGCCAGACCCTCTTTGAATGCACTTGAAGAAGTAATTTGTGGCCAGGTGCGGTGGCTTTCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCTCCTGAGGTCTGGAGTTTAAGACCAGCCTGGCCAACACGGTGAAACCACGTTTCTACTAAAAATACAAAAAAATTTAGCCTAGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCACGGGGCGGAAGTTGCAGTGAGCTGACGTTGTGCCATTGTACTACTCCAGCCTGGGCAATCAGCGAAACTCTGTCTCCAAGAAAAAAAAAAAAAAAAAAAAGAAGTAATTCATATATCTTCTAGTTTATAGTTGCTATTCAGAATAAGTGAATGTTTAGTCACTATTTTCTAGTTATTTTTATGTGTAGTGATTTATTGTATTGTGAATATGACTATCCACCTAAATATTTCTCTTTGCATTTTAATTACTGTTTTATAAGGAAACCGTGATTTTTTAACAGTAACCAAAAACATTGTTTTGTGTATTTGATTATTTTCGGATTCCAG
Seq C2 exon
GGTAGATATAGCACACCTATGCCTTTACAACCTAAGTGTTATTCATAAGAAGAAATACTTTGATTCTGAACTTGAGCTTATGACATACATTAATGAAAACTGGGATAGATTGCACCCTGGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143033:ENST00000370298:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.005
Domain overlap (PFAM):

C1:
PF0062824=PHD=PD(22.6=50.0)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTATACGTTTATATGCTCTGTCTGCA
R:
CTCTCCAGGGTGCAATCTATCC
Band lengths:
190-1337
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