Basic Information

Symbol
B9D1
RNA class
mRNA
Alias
B9 Domain Containing 1 MKSR-1 EPPB9 MKS9 B9 Endothelial Precursor Protein B9 B9 Domain-Containing Protein 1 MKS1-Related Protein 1 B9 Protein Domain 1 MKSR1 JBTS27
Location (GRCh38)
17:19334308-19378193
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_015681.6
Sequence length
913.0 nt
GC content
0.5915

Secondary Structure

Generated by RNAfold
Minimum free energy (MFE) structure:
Secondary structure that contributes a minimum of free energy.
Ensemble properties:
Thermodynamic properties of the Boltzmann ensemble.
Minimum free energy
-364.60 kcal/mol
Thermodynamic ensemble
Free energy: -380.17 kcal/mol
Frequency: 0.0000
Diversity: 151.75
MFE Structure Visualization
Structure Prediction
MFE Structure Prediction
(((.(((.((((((....))))))((((((((...(((((.((.((((.((......)).)).)))).)))))((((((..((.((((..((((((((.(((((.....(((....))).((.((.((((((....)).))))))))(((((((.((..(((((.((((...((...))....)))).)))))..))))))))).)))))))))((((......((((.((.....))))))......)))).(((((((.((((((((...((((((.......)))))).(((((((((((((...)))))........((((...(((.((.(((.(((..((((((((.((.((......)).))..)).......)))))).........))).))).)).)))..)))).((((((((((.(((...((.((...((((......)))))).))..)))..)))))))))).)))))))).))))))))))))))).(((...)))........(((((((((((..(...((((((.....))))))...)..))))).)))))))))))))).))...)))))).....((.((.(((((.((((((((.(((((((..(((....)))..))))).)).)))(((((((((((((.....(.(((...))).).....)))))....)))...)))))(((((((..(((((((((...))))))))))))))))..)))))..))))).)).)).))))))))......))))))....(((((((.(((((..(((((.(((....))).)))))(((((((.((.....)).)))))))((((((.((........)).))).)))......................))))).)))))))
Thermodynamic Ensemble Prediction
(((.(((.((((((....))))))((((((((...(((((.((.((((.((......)).)).)))).)))))((((((.,({.((((..((((((((,(((({.,...{{{....))).{{.((.((((((....)).)))))),}(((((((.((..(((((.((((...{{...,,....)))).)))))..))))))))),))))}))))((((......((((.{{.....)))))),,....}})),(((((((.((((((((..,((((((,....,.))))))}(((((((((((((...)))))........((((...(((.((.(((.(((..{(({((((..(,{,....,,||.,,.....,,..,,)}}))).,.......))).))).)).)))..)))).((((((((((.((..{{(,,(({..((((......))))}}})),,).,)})))))))))).)))))))).))))))))))))))).((,...,}),.......(((((((((((..(...((((((.....))))))...)..))))).)))))))))))))).}).,.)))))).....((.((.(((((.(((((,{((((((({{..{{|,,,.|||,.|||||,,},|||{(((((({{{{{{......,{||}},)}),),...})))))...,))),..,},,.((((((({,,,(((((((...)))))))))))))))),,)))))..))))).)),)}.))))))))......))))))....(((((((.(((((.,(((((.(((....))).)))))(((((((.((,...,)).)))))))((((((.((........)).))).))).....,{{{{{...,}}}}..,))))).)))))))

Transcripts

ID Sequence Length GC content
NM_001321214.2 NCBI
GCAUGCCACACGCGCACUCGCGUGGCCUUCGCGAAGGUGUCGCUGCCAA… 1120 nt 0.6018
NM_001321215.3 NCBI
GCAUGCCACACGCGCACUCGCGUGGCCUUCGCGAAGGUGUCGCUGCCAA… 3497 nt 0.5733
NM_001321216.2 NCBI
GCAUGCCACACGCGCACUCGCGUGGCCUUCGCGAAGGUGUCGCUGCCAA… 805 nt 0.5689
NM_001321217.2 NCBI
GCAUGCCACACGCGCACUCGCGUGGCCUUCGCGAAGGUGUCGCUGCCAA… 1034 nt 0.5377
NM_001321218.2 NCBI
GCAUGCCACACGCGCACUCGCGUGGCCUUCGCGAAGGUGUCGCUGCCAA… 3680 nt 0.5228
NM_001321219.2 NCBI
GCAUGCCACACGCGCACUCGCGUGGCCUUCGCGAAGGUGUCGCUGCCAA… 3612 nt 0.5199
NM_001330149.2 NCBI
GCAUGCCACACGCGCACUCGCGUGGCCUUCGCGAAGGUGUCGCUGCCAA… 677 nt 0.6056
NM_001368769.2 NCBI
CUCUCCGCAGCUUCCGGCCAAGUUGGACUGCAGCUCGCGGUUUCCUGGC… 3518 nt 0.5153
NM_015681.6 NCBI
GCAUGCCACACGCGCACUCGCGUGGCCUUCGCGAAGGUGUCGCUGCCAA… 913 nt 0.5915
Summary

This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]

Forensic Context

A study in C57BL/6J mice demonstrated that the B9D1 is part of a ciliary transition zone pathway downregulated in female versus male embryos at gastrulation stage E7.0 [Boschen et al. DOI:10.1002/Bdr2.2292].