| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs767318278 |
G>A,C |
Pathogenic, uncertain-significance |
Missense variant, stop gained, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant |
| rs780189423 |
G>A,T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant, synonymous variant |
| rs1575883384 |
T>A |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant |
| rs1576949430 |
C>T |
Pathogenic |
Intron variant, non coding transcript variant, genic downstream transcript variant, missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant |
|
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
Q9UIF8 |
| Protein name |
Bromodomain adjacent to zinc finger domain protein 2B (hWALp4) |
| Protein function |
Regulatory subunit of the ATP-dependent BRF-1 and BRF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, an |
| PDB |
2E7O
, 3G0L
, 3Q2F
, 4CUP
, 4CUQ
, 4CUR
, 4CUS
, 4CUT
, 4CUU
, 4IR3
, 4IR4
, 4IR5
, 4IR6
, 4NR9
, 4NRA
, 4NRB
, 4NRC
, 4QC1
, 4QC3
, 4QF3
, 4RVR
, 4XUA
, 4XUB
, 5CQ3
, 5CQ4
, 5CQ5
, 5CQ6
, 5CQ7
, 5CQ8
, 5CQA
, 5CU8
, 5CUA
, 5CUB
, 5CUC
, 5CUD
, 5CUE
, 5CUG
, 5DYU
, 5DYX
, 5E73
, 5E74
, 5E9I
, 5E9K
, 5E9L
, 5E9M
, 5E9Y
, 5L8T
, 5L8U
, 5L96
, 5L97
, 5L98
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF01429 |
MBD |
739 → 813 |
Methyl-CpG binding domain |
Domain |
| PF02791 |
DDT |
1088 → 1149 |
DDT domain |
Family |
| PF15613 |
WSD |
1372 → 1477 |
Williams-Beuren syndrome DDT (WSD), D-TOX E motif |
Family |
| PF00628 |
PHD |
1933 → 1981 |
PHD-finger |
Domain |
| PF00439 |
Bromodomain |
2069 → 2151 |
Bromodomain |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Expressed at varying levels in several tissues, whereas a smaller transcript was expressed specifically in testis. |
| Sequence |
MESGERLPSSAASSTTPTSSSTPSVASVVSKGGLSTGVASLSSTINPCGHLFRTAGDQPF NLSTVSSAFPMVSHPVFGLHSASSGHSEFGGLGTLGTPTALAAHPQLASFPGAEWWRTTD AHTRTGATFFPPLLGIPPLFAPPAQNHDSSSFHSRTSGKSNRNGPEKGVNGSINGSNTSS VIGINTSVLSTTASSSMGQTKSTSSGGGNRKCNQEQSKNQPLDARVDKIKDKKPRKKAME SSSNSDSDSGTSSDTSSEGISSSDSDDLEEDEEEEDQSIEESEDDDSDSESEAQHKSNNQ VLLHGISDPKADGQKATEKAQEKRIHQPLPLASESQTHSFQSQQKQPQVLSQQLPFIFQS SQAKEESVNKHTSVIQSTGLVSNVKPLSLVNQAKKETYMKLIVPSPDVLKAGNKNTSEES SLLTSELRSKREQYKQAFPSQLKKQESSKSLKKVIAALSNPKATSSSPAHPKQTLENNHP NPFLTNALLGNHQPNGVIQSVIQEAPLALTTKTKMQSKINENIAAASSTPFSSPVNLSTS GRRTPGNQTPVMPSASPILHSQGKEKAVSNNVNPVKTQHHSHPAKSLVEQFRGTDSDIPS SKDSEDSNEDEEEDDEEEDEEDDEDDESDDSQSESDSNSESDTEGSEEEDDDDKDQDESD SDTEGEKTSMKLNKTTSSVKSPSMSLTGHSTPRNLHIAKAPGSAPAALCSESQSPAFLGT SSSTLTSSPHSGTSKRRRVTDERELRIPLEYGWQRETRIRNFGGRLQGEVAYYAPCGKKL RQYPEVIKYLSRNGIMDISRDNFSFSAKIRVGDFYEARDGPQGMQWCLLKEEDVIPRIRA MEGRRGRPPNPDRQRAREESRMRRRKGRPPNVGNAEFLDNADAKLLRKLQAQEIARQAAQ IKLLRKLQKQEQARVAKEAKKQQAIMAAEEKRKQKEQIKIMKQQEKIKRIQQIRMEKELR AQQILEAKKKKKEEAANAKLLEAEKRIKEKEMRRQQAVLLKHQERERRRQHMMLMKAMEA RKKAEEKERLKQEKRDEKRLNKERKLEQRRLELEMAKELKKPNEDMCLADQKPLPELPRI PGLVLSGSTFSDCLMVVQFLRNFGKVLGFDVNIDVPNLSVLQEGLLNIGDSMGEVQDLLV RLLSAAVCDPGLITGYKAKTALGEHLLNVGVNRDNVSEILQIFMEAHCGQTELTESLKTK AFQAHTPAQKASVLAFLINELACSKSVVSEIDKNIDYMSNLRRDKWVVEGKLRKLRIIHA KKTGKRDTSGGIDLGEEQHPLGTPTPGRKRRRKGGDSDYDDDDDDDSDDQGDEDDEDEED KEDKKGKKTDICEDEDEGDQAASVEELEKQIEKLSKQQSQYRRKLFDASHSLRSVMFGQD RYRRRYWILPQCGGIFVEGMESGEGLEEIAKEREKLKKAESVQIKEEMFETSGDSLNCSN TDHCEQKEDLKEKDNTNLFLQKPGSFSKLSKLLEVAKMPPESEVMTPKPNAGANGCTLSY QNSGKHSLGSVQSTATQSNVEKADSNNLFNTGSSGPGKFYSPLPNDQLLKTLTEKNRQWF SLLPRTPCDDTSLTHADMSTASLVTPQSQPPSKSPSPTPAPLGSSAQNPVGLNPFALSPL QVKGGVSMMGLQFCGWPTGVVTSNIPFTSSVPSLGSGLGLSEGNGNSFLTSNVASSKSES PVPQNEKATSAQPAAVEVAKPVDFPSPKPIPEEMQFGWWRIIDPEDLKALLKVLHLRGIR EKALQKQIQKHLDYITQACLKNKDVAIIELNENEENQVTRDIVENWSVEEQAMEMDLSVL QQVEDLERRVASASLQVKGWMCPEPASEREDLVYFEHKSFTKLCKEHDGEFTGEDESSAH ALERKSDNPLDIAVTRLADLERNIERRIEEDIAPGLRVWRRALSEARSAAQVALCIQQLQ KSIAWEKSIMKVYCQICRKGDNEELLLLCDGCDKGCHTYCHRPKITTIPDGDWFCPACIA KASGQTLKIKKLHVKGKKTNESKKGKKVTLTGDTEDEDSASTSSSLKRGNKDLKKRKMEE NTSINLSKQESFTSVKKPKRDDSKDLALCSMILTEMETHEDAWPFLLPVNLKLVPGYKKV IKKPMDFSTIREKLSSGQYPNLETFALDVRLVFDNCETFNEDDSDIGRAGHNMRKYFEKK WTDTFKVS
|
|
| Sequence length |
2168 |
| Interactions |
View interactions |