Arabidopsis thaliana (TAIR10)
Description

CBS / octicosapeptide/Phox/Bemp1 (PB1) domains-containing protein [Source:NCBI gene (formerly Entrezgene);Acc:824461]

Location
About this gene

This gene has 2 transcripts (splice variants), 273 orthologues and 9 paralogues.

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  • Name
  • Transcript ID
  • bp
  • Protein
  • Translation ID
  • Biotype
  • UniProt
  • RefSeq
  • Flags
NameTranscript IDbpProteinBiotypeUniProtRefSeqFlags
AT3G52950-201AT3G52950.12292556aa
 
Protein coding
A0A178VLH8 Q9LF97 -Ensembl Canonical
AT3G52950-202AT3G52950.22112556aa
 
Protein coding
A0A178VLH8 Q9LF97 --

HideVariant table

This table shows known variants for this gene. Use the 'Consequence Type' filter to view a subset of these.

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  • SI​FTAll
    SI​FT
     
     
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    1
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  • ConsequencesAll
    Consequences
     
    (31/31 on)
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    • PTV
    • PTV & Missense
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    • PTV = Protein Truncating Variant
    • (0)
       
      transcript ablation
    • (0)
       
      splice acceptor variant
    • (0)
       
      splice donor variant
    • (0)
       
      stop gained
    • (0)
       
      frameshift variant
    • (0)
       
      stop lost
    • (0)
       
      start lost
    • (0)
       
      transcript amplification
    • (0)
       
      inframe insertion
    • (0)
       
      inframe deletion
    • (40)
       
      missense variant
    • (0)
       
      protein altering variant
    • (0)
       
      splice donor 5th base variant
    • (2)
       
      splice region variant
    • (0)
       
      splice donor region variant
    • (0)
       
      splice polypyrimidine tract variant
    • (0)
       
      incomplete terminal codon variant
    • (0)
       
      start retained variant
    • (0)
       
      stop retained variant
    • (56)
       
      synonymous variant
    • (0)
       
      coding sequence variant
    • (0)
       
      mature miRNA variant
    • (57)
       
      5 prime UTR variant
    • (34)
       
      3 prime UTR variant
    • (0)
       
      non coding transcript exon variant
    • (31)
       
      intron variant
    • (0)
       
      NMD transcript variant
    • (0)
       
      non coding transcript variant
    • (0)
       
      coding transcript variant
    • (55)
       
      upstream gene variant
    • (24)
       
      downstream gene variant
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  • LocationAll
    Location
     
     
    3:19629331 - 3:19641845
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  • ClassAll
    Class
     
    (17/17 on)
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    • (265)
      SNP
    • (10)
      deletion
    • (0)
      genetic marker
    • (0)
      indel
    • (10)
      insertion
    • (12)
      sequence alteration
    • (0)
      substitution
    • (0)
      tandem repeat
    • (0)
      somatic SNV
    • (0)
      somatic deletion
    • (0)
      somatic genetic marker
    • (0)
      somatic indel
    • (0)
      somatic insertion
    • (0)
      somatic sequence alteration
    • (0)
      somatic substitution
    • (0)
      somatic tandem repeat
    • (0)
      No data
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  • Sour­ceAll
    Sour­ce
     
    (2/2 on)
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    • (297)
      The 1001 Genomes Project
    • (0)
      No data
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  • Evid­enceAll
    Evid­ence
     
    (11/11 on)
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    • (0)
      1000Genomes
    • (0)
      HapMap
    • (0)
      Cited
    • (0)
      ESP
    • (0)
      ExAC
    • (0)
      Frequency
    • (0)
      gnomAD
    • (0)
      Multiple_observations
    • (0)
      Phenotype_or_Disease
    • (0)
      TOPMed
    • (297)
      No data
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  • Clinical SignificanceAll
    Clinical Significance
     
    (14/14 on)
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    • (0)
      uncertain significance
    • (0)
      not provided
    • (0)
      other
    • (0)
      benign
    • (0)
      likely benign
    • (0)
      association
    • (0)
      histocompatibility
    • (0)
      confers sensitivity
    • (0)
      drug response
    • (0)
      risk factor
    • (0)
      likely pathogenic
    • (0)
      protective
    • (0)
      pathogenic
    • (297)
      No data
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  • AA coordAll
    AA coord
     
     
    1 - 560
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  • TranscriptAll
    Transcript
     
    (2/2 on)
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    • (154)
      AT3G52950.1
    • (143)
      AT3G52950.2
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  • Filter Other ColumnsAll
    • Location
    • Class
    • Sour­ce
    • Evid­ence
    • Clinical Significance
    • AA coord
    • Transcript
Show/hide columns
  • Variant ID
  • Chr: bp
  • Alle­les
  • Class
  • Sour­ce
  • Evid­ence
  • Clin. Sig.
  • Conseq. Type
  • AA
  • AA co­ord
  • SI​FT
  • Transcript
Variant ID
Chr: bp
Alle­les
Class
Sour­ce
Evid­ence
Clin. Sig.
Conseq. Type
AA
AA co­ord
SI​FT
Transcript
ENSVATH127348923:19634137C/GSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH127348933:19634156C/TSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH024972613:19634167T/ASNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH127348943:19634168T/ASNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
tmp_3_19634169_T_A3:19634169T/ASNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
tmp_3_19634170_T_A3:19634170T/ASNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
tmp_3_19634175_T_G3:19634175T/GSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH063047763:19634181A/TSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
tmp_3_19634184_A_T3:19634184A/TSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
tmp_3_19634223_TA_T3:19634224A/-deletionThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
tmp_3_19634228_G_T3:19634228G/TSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH024972623:19634229A/GSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH063047773:19634230A/GSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
tmp_3_19634232_T_C3:19634232T/CSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH127349053:19634235A/TSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH024972633:19634236A/TSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH063047783:19634237A/TSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH063047793:19634238A/TSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH024972643:19634239A/TSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH024972653:19634240T/ASNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH063047813:19634249T/ASNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH063047823:19634256G/ASNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
tmp_3_19634258_C_T3:19634258C/TSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH004166393:19634261T/GSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH024972663:19634283G/TSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
tmp_3_19634292_T_C3:19634292T/CSNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH024972673:19634304G/ASNPThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
tmp_3_19634307_T_TA3: between 19634307 & 19634308-/AinsertionThe 1001 Genomes Project--
 
upstream gene variant
---AT3G52950.1
ENSVATH153648643:19634341-19634342AA/A/-/AAAsequence alterationThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
ENSVATH153648643:19634341-19634342AA/A/-/AAAsequence alterationThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
ENSVATH153648643:19634341-19634342AA/A/-/AAAsequence alterationThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
ENSVATH151925363:19634342A/GSNPThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
ENSVATH042503053: between 19634343 & 19634344-/GinsertionThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
tmp_3_19634345_A_G3:19634345A/GSNPThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
ENSVATH063047833:19634360G/CSNPThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
ENSVATH024972683:19634392T/GSNPThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
ENSVATH024972693:19634417C/ASNPThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
tmp_3_19634433_G_C3:19634433G/CSNPThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
ENSVATH127349063:19634440A/CSNPThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
tmp_3_19634445_CCA_C3:19634446-19634447CA/-deletionThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
ENSVATH127349073:19634455G/ASNPThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
ENSVATH004166403:19634462G/ASNPThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
ENSVATH151925373:19634474G/-deletionThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
ENSVATH144269263:19634489G/ASNPThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
ENSVATH024972703:19634497T/ASNPThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
ENSVATH063047843:19634502T/ASNPThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
ENSVATH042503063:19634518T/-deletionThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
ENSVATH004166413:19634530A/GSNPThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
tmp_3_19634531_A_G3:19634531A/GSNPThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1
tmp_3_19634540_G_T3:19634540G/TSNPThe 1001 Genomes Project--
 
5 prime UTR variant
---AT3G52950.1