Special

HsaINT0187936 @ hg38

Intron Retention

Gene
ENSG00000221994 | ZNF630
Description
zinc finger protein 630 [Source:HGNC Symbol;Acc:HGNC:28855]
Coordinates
chrX:48060819-48067061:-
Coord C1 exon
chrX:48066872-48067061
Coord A exon
chrX:48060946-48066871
Coord C2 exon
chrX:48060819-48060945
Length
5926 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
3' ss Seq
ACAGGAATGTGCTGTTATAGGAA
3' ss Score
4.79
Exon sequences
Seq C1 exon
GACGAAGTTCCGGAAATGGAATTACCGAGTCAGATGAGAAACACAAGTCATCAATGAATTAACAAGCAACACATTGTCACATCCAGCTGTTGAAGAGTGGTTAACTCAGCTTGATCTCCGAAGACTCTTCTGCACCCCACCCCGCCCCCAACTGCTTTCCAAAGAGAAACAGAAAATGATTGAGTCCCAG
Seq A exon
GTAAGTTATTTGTTTGCCACTTGGTTTTCCCACAACAAAATGAGAAAGGGCAATTAGTTGAAAATAAGGATTAGAGAAATTTAGAGAGAATAGATGATCAACAGGCAAAATTGCTGTGAAGATACACAGATCACCTGGCCTTACTTCATAGAAACTTAGCTAAAATTTTGACTATAAGCAAAACATTTTGACTGGCAGCTTCAGTGAAAAGGGTAACATAACATGATCAATAATGTGATTTGCATTCTCCACAAAAAGAAATCAGTCCAGCTCCTTAGCAAGTCAAGATTTCTGGGACTTTAACTTGAGGAATTTTATTACTGAGTTTTCCTGAAGGTCAGTGGTTTTCAGTCCAGGGTGGTATTGTCAGTAGTTGTTCTAAAGAGACTGTTTTTAGTTAAAGTTCTCTGGCAGGGGCTTGGAGAGTGGGATAGTTTCCTTGTTTTCCATGGCTCCTTTGCTGTCATCTCAGAGTTTGTGGGGTCTCAACCCAACTCAAGGCAGTTCCTTCTCTGCTCTTCCAATTTTAGTCGTTTTTTTTTTTTCTCCCTGAAAAGGTAATCTATACATGGGGCAAAGAATGTAAACAATATAGTTTAAAAAAAAAAAGGAAGTGAAATATCTCCAATCTTACTTCTTCCTCCTTCCCCGACATAACTAGGATTATCTGGTTTGAGGAGGATCTCTTTTCTTTATGCATTTATAACTCCATCTATGTGTGTAGATGGATGTGTAAATGTGTGAAAGTGATCTCATTATTGTCATGTATTTTTTCTTTACCACACACAAAAAATACACACACTGTTTCTATTCCGTTCTGCTACTTTCTTTTCTTGCCTAATATAAAATATATACGAAAGTAGAGATTTTAGTGAACCCTTTTGTAATTACCCATCTGCAAATATTATCAACTGATAACCAAGCTTGTTTTATCTATCTTTCATCCCCACCTACTCCTATCGTCATCATCATCATGATCTAGCCAATCCCTTGTTAATATTTTGTTTAGGGTTTATACTACTGTGTTCATAAGACATAAGGGCCTGTAATTTTACTTTCTTCTATTGTTTCTGTCACCTTTTGGTATCATGTTACATTGGCCTCATGTTGGAAAGTATTCTCTTTATATTCTCTGGGAAAATTTGGGTAATATTGGTACTATTTCCATCTTAAATTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGATATCCGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAAGTGCCCGCCACCAAGTAGCTGGGATTACAAGTGCCTGCCTGCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTTTTTGAGACCGGGTTTCACCCCAGTTGCCCAGGCTAGAGTGCAGTGGCACTATCTTGCCTCACTGCAGCCTTGACCTCCCAGGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAATTCCTGGCCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGCGCCCGGCCTATTTCCTTCTTAAATGTTTGAAAGAGCTCCCCAGTGAAGCCATCAGGGTATGGAGTTTTCTTTGTGGGAAGGTTTTAAATTACATATTCAATTTATTTAAAAGATATACTACCATTCAGATTTTCTATTTCTTTTTATGTCTGGTTTGGTAAATTGTAATTTTCAAGTAATTTGTCCAGTTCCTCTAAGTCAGGGGTCAGCAAACTTTTTCTGTAGAGGGACAGATCGAAGTATCTGAGGCTTTGTGGGCCATACGGCCCCTGTTGCAACTATTCAAATCTGCTGTTTTAGGTAGAAAGCAGCTATTGACAATATGTAAACCAATGAGCCTGGCTGTGATTCAATAACACTTTATTTATGGATGCTGAAGGTTGGATTTCATATAATTTTCATGTGTCATAAAATATTCTTCTTTTGACTTTTTTTTCAATCATTAAAAATGTAAAAACCAGACCAGATACAGCTAGCTATTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATTGCTTGAGCTCAGGAGTTCTAGACCAGCCTGGGCAGCATGGCGAAACCGCATCTCTACAAAAAAATACAAAAATTAACCAGGCATGGTGGCATGCGCCTGTGGTCCCAGCTACTCAGGAGGCTGATGTAGGAGAATCACTTGAGCCCGGGAGGAGGAGGTTGCAGTGAATCAAGACTGTTCCACTGTACTCCAGCTTGGCTGATAGAGCAAGACTGTCTCAAAAGAAAACGTGTAAAACCAGTTTAGCTTGTGGGCCATTGAAAAACACATGATGGGCTAAATTTGGCCTGCAGGCTATAGTTTGCTATGTCCTGATCTACATTGTCTACTGATGTACATTGTCAAATTAATGTCCATTAAATGTCCATTTAATGTTTGCAGGATACCAGAACCTTGTTGATGGGCTGTAAAAAAGTTATTTCTAGTTTTTCTTTTATATACAGTAGTAATAATAATAAGAAGAATCATAGCTACTATTTACTCAGTGCTTATCATGTGCCAGGCACTGCTATTATAAAATATCGTGGGATTAACTTATTTAATTCACCCAGGAACCCTCTGTGCTAGGTACCATTGTTATTCCCATTTTTCAGATGAAGAAAATGAGGCACAGAGATCACACAGCTAGTACATGACCTAACCAGACCTCTCAAGCAGTGAAGTCACAAATAAAACAACCATATAAAGATATCTTTTTATATTTGTGAAGTATTTGTGTAGGCCACATTCTCAGACATGAGTGTGCTAGGTCAGAGGCACACAGACTTATAAATTTAAAGAGTATTTTTCAAATCGTATATATATATATTTTTTTGAGACAAAGTCTCACTCTGTCCCCCAGGTTGGAGTGCAGTGGCATGATCTCAGCTCACTGTAACCTCCGCCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCGGAGTAGCAGGGATTACAAGTGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCCTGCCCAGCCCAAATTGTATTTCAATACTGTGTAATCAGCTGAACATGTGGCCACAAATTGTTTACAAGAAAGCCCACCTGTTTCCCAAGGTTCCCCCTCCCTCCTGCCACCATTAGCCATCATCTGTTTTTTTCATTCTTGTTGTTTTTATGATTAAGCATTATATCTCATTTTCATTTGCTTTTCTATAGGGATTAAATAAGCTTCAGCATCTTTTCACATATTTATTTTCCATATTGTATTTCTCTGTGAATCCCTCTTTCCTTGTCTTTGCTTATGGTTTCCCAGGAGCTTTTTGTATATGAGTGATTTTGAAGTGCACATTGCAAACTTTTTTTTTTTTTTTTTTGGCCAGGTAGTGATTTTTCTCTCAACCTTTTTGTCTGTCTCCCCTCACTAGAATACAAACTCCTTCAGGGAAGGTATTTTTGCCAGGTTTTTTTTCCTGCTGTATCCCCAGTTCCTAGAATAGTGCTTGGTATTCGCTAGGTACTCAATAACTGCTTGCTGAGTGAATGAATGTTTATTTTCACTTAACAGTGTATCTTAAATATTGTGGCATATCAATTAATATAGATCTTCCTTGTTGCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAGGGTTTCACCCCAGTTGCCCAGGCTAGAGTGCAGTGGCACTATCTTGCCTCACTGCAGTCTTGACCTCCCAGGCTCAGGTAATCCTCTCACCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGTGTGCCACCACACCCGGCTAATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTTGTTTGTTTGTTTTTGAGACAGAGTCTCAGTCTGTCGCCCAGGCTTGAGTGCAGTGGCACAGTCTCGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTGATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTCCCTTATGGAGATTGTAGCATTATTTATTCATCCAATCTCCCATGAGGTGGTTTCCATTCTTTTGCTATTATAAATAGTACTGTAGAGCAGTGTCTTCACACATGTCATTTGCTCACATAAGTGAATGTTTATGTAGAATAACTTCTAGAAACCAAATTGCGAGTCAGAGGATGTATACATTATAAATTTGGATAGATATTGCCAAATTAATTGCCTTCAAAATATACCATACACCACAGACAATTTGAGTATGCCTGCTTCTTGACATCTTCACTAACTTACCCTAAGTCACTGTGACTTATCCCTAGTCATAGCATTTGACCAGTGACTTATCAAACACCCATCTTTGATAATATGTAAGGGAAAAATGCTGTCTTGTCTTAGTTTGCATTTATCTTCATGTGAGTGAAGTTGAGCATCTTTTTACATGTTTAAAAAACATTTGCATTTTATTTTCTGTGAAATGATGGTCATGTCCCTTGACCATCGTATTAGTCTGTTCTCATGTCACTATAAAGAAATACCCAAGACTGGGTAATTTATAAAGGAGAGAGGTTTAATTGACTCACAGTTCCACGGGGGTGGGGAAGCCTCAGGAAACTTACAATCATGGTGGAAGGGGAAGCAAGGACCTTCTTCACATGGTGGCAGGAGAGAGAAGTGCCAGCAAGGGAAATGCCAGACGCTTATAATACCATTAGATCTTGTGAGAACTCACTCACTATTATGAGAACAGCATGGGGGAAACTGCCTCCATGATTCAATCACCTCCTTCACTTGACAAGTGGGGATTGCAATTCAAAATGAGATTTGGGTGGGGAAACAGAGTCAAACCATATCAACCATTTTTTAAAAAGTTATTGGTCTTTTTCTTCTTGCTTTGTAGGAGCTCTCTCTATACATGGAGGAAATTAACTCTTTGTCCATCCTATCTGTTATGTGTATATTTTTTCCCTAGTTAGTCATATCCTTTGAGTTTGTTTGATATATTTTGCCATGTAATACATAAAGTAGTCACATTTATCAGTGTTTTCATTTGTGGCATCTGGGTTTTGGGGCATGCTTAGAAGAGTCTTCTCCACTCAAAGATTATTTTTTAAAACCTCTCCTGTCTTTATTTTATAGTTTCTCTTTTTTCATTTAAATTTTTGTCATGAATTTATTTTTGTATATAGTGTGAGGTAGGGAATCCAGTTAATTTTTTTCTGATAGCTCTCCAGTTTTGAATAGTCTGTTTTTCCATTCCTGTTTAAAATGCTACCTTTATTATATATTAAATTTCCCATTTTTATTTGTATCTATTTCTAGACTGTCTGTTCTGTTCCACTAACTATTCTTGCTAATGGCAGGGTTTTACATTGTTTCTCTCATAAAGTATGCTGGGCAAAGTGCAAAGTAGGCATCCTACATGTACTGCTATGGTAAAAATGACCAGAACGAGCAGATTGTACAGGAATGTGCTGTTATAG
Seq C2 exon
GAACCAGTGACATTTGAGGATGTGGCTGTGGACTTCACGCAGGAAGAGTGGCAGCAGTTGAATCCTGCTCAGAAGACCCTGCATAGGGATGTGATGCTGGAGACCTATAATCACCTGGTCTCCGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000221994:ENST00000409324:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.002
Domain overlap (PFAM):

C1:
PF0135222=KRAB=PU(3.2=20.0)
A:
NA
C2:
PF0135222=KRAB=WD(100=95.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains