-Genomic Data for PAX6 Links
Protein
PAX6
UniPROBE Accession Number
UP00611
Species
Homo sapiens
Domain
PAX
Swiss-Prot
Q66SS1
Name and Synonyms
Name: paired box protein Pax-6.
Synonyms:AN, AN2, Aniridia type II protein, D11S812E, MGC17209, MGDA, Oculorhombin, Paired box protein Pax-6, WAGR
IHOP
90834
Description
This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
NCBI RefSeq
NP_000271
PAX6 DNA binding domain
1   QRNRTSFTQE QIEALEKEFE RTHYPDVFAR ERLAAKIDLP EARIQVWFSN
51  RRAKWRR
JASPAR
MA0069.1
-PBM Motif Data for PAX6_REF_R2
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
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Top Kmer
G.TAATTA.C E.S. 0.481
G.TAATTA.C E.S. 0.481
Downloads
Download the zip of all PAX6_REF PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for PAX6_REF_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
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Top Kmer
G.GTGCAC.C E.S. 0.489
G.GTGCAC.C E.S. 0.489
Downloads
Download the zip of all PAX6_REF PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for PAX6_A79E_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
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Top Kmer
CCC.GCCT.C E.S. 0.447
G.AGGC.GGG E.S. 0.447
Downloads
Download the zip of all PAX6_A79E PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for PAX6_F258S_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
Save
Top Kmer
G.GTGCAC.C E.S. 0.487
G.GTGCAC.C E.S. 0.487
Downloads
Download the zip of all PAX6_F258S PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for PAX6_P118R_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
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Top Kmer
G.TAATTA.C E.S. 0.492
G.TAATTA.C E.S. 0.492
Downloads
Download the zip of all PAX6_P118R PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for PAX6_P68S_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
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Top Kmer
CCAAG.GTC E.S. 0.399
GAC.CTTGG E.S. 0.399
Downloads
Download the zip of all PAX6_P68S PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for PAX6_R128C_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
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Top Kmer
C.GAGCTC.G E.S. 0.446
C.GAGCTC.G E.S. 0.446
Downloads
Download the zip of all PAX6_R128C PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for PAX6_R242T_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
Save
Top Kmer
G.GTGCAC.C E.S. 0.486
G.GTGCAC.C E.S. 0.486
Downloads
Download the zip of all PAX6_R242T PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for PAX6_R26G_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
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Top Kmer
G..CCCCACC E.S. 0.437
GGTGGGG..C E.S. 0.437
Downloads
Download the zip of all PAX6_R26G PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for PAX6_S119R_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
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Top Kmer
TC.CATG.GA E.S. 0.400
TC.CATG.GA E.S. 0.400
Downloads
Download the zip of all PAX6_S119R PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for PAX6_V126D_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
Save
Top Kmer
GC..TCCACA E.S. 0.387
TGTGGA..GC E.S. 0.387
Downloads
Download the zip of all PAX6_V126D PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
Download Data for PAX6 (all alleles)
Downloads
Download the zip of all PAX6 PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PAX6 Datasets
Clone Clone Type Last Modified Save View
PAX6_REF DNA binding domain only search save
PAX6_REF Insert Sequence
1    MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN
51   GCVSKILGRY YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW
101  EIRDRLLSEG VCTNDNIPSV SSINRVLRNL ASEKQQMGAD GMYDKLRMLN
151  GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ EGGGENTNSI SSNGEDSDEA
201  QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR ERLAAKIDLP
251  EARIQVWFSN RRAKWRREEK LRNQRRQASN TP


PAX6_A79E DNA binding domain only search save
PAX6_A79E Insert Sequence
1    MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN
51   GCVSKILGRY YETGSIRPRA IGGSKPRVET PEVVSKIAQY KRECPSIFAW
101  EIRDRLLSEG VCTNDNIPSV SSINRVLRNL ASEKQQMGAD GMYDKLRMLN
151  GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ EGGGENTNSI SSNGEDSDEA
201  QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR ERLAAKIDLP
251  EARIQVWFSN RRAKWRREEK LRNQRRQASN TP


PAX6_F258S DNA binding domain only search save
PAX6_F258S Insert Sequence
1    MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN
51   GCVSKILGRY YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW
101  EIRDRLLSEG VCTNDNIPSV SSINRVLRNL ASEKQQMGAD GMYDKLRMLN
151  GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ EGGGENTNSI SSNGEDSDEA
201  QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR ERLAAKIDLP
251  EARIQVWSSN RRAKWRREEK LRNQRRQASN TP


PAX6_P118R DNA binding domain only search save
PAX6_P118R Insert Sequence
1    MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN
51   GCVSKILGRY YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW
101  EIRDRLLSEG VCTNDNIRSV SSINRVLRNL ASEKQQMGAD GMYDKLRMLN
151  GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ EGGGENTNSI SSNGEDSDEA
201  QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR ERLAAKIDLP
251  EARIQVWFSN RRAKWRREEK LRNQRRQASN TP


PAX6_P68S DNA binding domain only search save
PAX6_P68S Insert Sequence
1    MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN
51   GCVSKILGRY YETGSIRSRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW
101  EIRDRLLSEG VCTNDNIPSV SSINRVLRNL ASEKQQMGAD GMYDKLRMLN
151  GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ EGGGENTNSI SSNGEDSDEA
201  QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR ERLAAKIDLP
251  EARIQVWFSN RRAKWRREEK LRNQRRQASN TP


PAX6_R128C DNA binding domain only search save
PAX6_R128C Insert Sequence
1    MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN
51   GCVSKILGRY YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW
101  EIRDRLLSEG VCTNDNIPSV SSINRVLCNL ASEKQQMGAD GMYDKLRMLN
151  GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ EGGGENTNSI SSNGEDSDEA
201  QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR ERLAAKIDLP
251  EARIQVWFSN RRAKWRREEK LRNQRRQASN TP


PAX6_R242T DNA binding domain only search save
PAX6_R242T Insert Sequence
1    MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN
51   GCVSKILGRY YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW
101  EIRDRLLSEG VCTNDNIPSV SSINRVLRNL ASEKQQMGAD GMYDKLRMLN
151  GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ EGGGENTNSI SSNGEDSDEA
201  QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR ETLAAKIDLP
251  EARIQVWFSN RRAKWRREEK LRNQRRQASN TP


PAX6_R26G DNA binding domain only search save
PAX6_R26G Insert Sequence
1    MQNSHSGVNQ LGGVFVNGRP LPDSTRGKIV ELAHSGARPC DISRILQVSN
51   GCVSKILGRY YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW
101  EIRDRLLSEG VCTNDNIPSV SSINRVLRNL ASEKQQMGAD GMYDKLRMLN
151  GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ EGGGENTNSI SSNGEDSDEA
201  QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR ERLAAKIDLP
251  EARIQVWFSN RRAKWRREEK LRNQRRQASN TP


PAX6_S119R DNA binding domain only search save
PAX6_S119R Insert Sequence
1    MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN
51   GCVSKILGRY YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW
101  EIRDRLLSEG VCTNDNIPRV SSINRVLRNL ASEKQQMGAD GMYDKLRMLN
151  GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ EGGGENTNSI SSNGEDSDEA
201  QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR ERLAAKIDLP
251  EARIQVWFSN RRAKWRREEK LRNQRRQASN TP


PAX6_V126D DNA binding domain only search save
PAX6_V126D Insert Sequence
1    MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN
51   GCVSKILGRY YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW
101  EIRDRLLSEG VCTNDNIPSV SSINRDLRNL ASEKQQMGAD GMYDKLRMLN
151  GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ EGGGENTNSI SSNGEDSDEA
201  QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR ERLAAKIDLP
251  EARIQVWFSN RRAKWRREEK LRNQRRQASN TP


References
Data are analyzed by array designs with AMADID #s 030236, 015681 in Barrera et al., Science 2016


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