Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | atrial fibrillation | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:29892015 and PMID:30061737 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | atrial fibrillation | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:29892015 and PMID:30061737 | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12477932 | PMID:16850186 | PMID:19460752 | PMID:21873635 | PMID:25701605 | PMID:29235940 | PMID:35156780 |
SLC9B1 (Homo sapiens - human) |
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Slc9b1 (Mus musculus - house mouse) |
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Slc9b1 (Rattus norvegicus - Norway rat) |
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Slc9b1 (Chinchilla lanigera - long-tailed chinchilla) |
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SLC9B1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SLC9B1 (Canis lupus familiaris - dog) |
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Slc9b1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SLC9B1 (Sus scrofa - pig) |
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SLC9B1 (Chlorocebus sabaeus - green monkey) |
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Variants in SLC9B1
67 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] | Chr4:92913386..165299707 [GRCh38] Chr4:93834537..166220859 [GRCh37] Chr4:94053560..166440309 [NCBI36] Chr4:4q22.2-32.3 |
pathogenic |
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 | copy number gain | See cases [RCV000051776] | Chr4:96092893..136410207 [GRCh38] Chr4:97014044..137331362 [GRCh37] Chr4:97233067..137550812 [NCBI36] Chr4:4q22.3-28.3 |
pathogenic |
NM_001100874.2(SLC9B1):c.772G>A (p.Asp258Asn) | single nucleotide variant | Malignant melanoma [RCV000060889] | Chr4:102932181 [GRCh38] Chr4:103853338 [GRCh37] Chr4:104072787 [NCBI36] Chr4:4q24 |
not provided |
NM_001008388.5(CISD2):c.109G>C (p.Glu37Gln) | single nucleotide variant | Wolfram syndrome 2 [RCV000000940] | Chr4:102885221 [GRCh38] Chr4:103806378 [GRCh37] Chr4:4q24 |
pathogenic |
NM_001008388.5(CISD2):c.240G>A (p.Pro80=) | single nucleotide variant | Wolfram syndrome 2 [RCV002492454]|not provided [RCV001519221] | Chr4:102885352 [GRCh38] Chr4:103806509 [GRCh37] Chr4:4q24 |
benign|likely benign |
NM_001008388.4(CISD2):c.330C>G (p.Cys110Trp) | single nucleotide variant | not specified [RCV000124309] | Chr4:102887352 [GRCh38] Chr4:103808509 [GRCh37] Chr4:4q24 |
benign |
NM_001008388.4(CISD2):c.330C>T (p.Cys110=) | single nucleotide variant | not specified [RCV000124310] | Chr4:102887352 [GRCh38] Chr4:103808509 [GRCh37] Chr4:4q24 |
benign |
NM_001008388.4(CISD2):c.335G>A (p.Gly112Asp) | single nucleotide variant | not specified [RCV000124311] | Chr4:102887357 [GRCh38] Chr4:103808514 [GRCh37] Chr4:4q24 |
benign |
NM_001008388.4(CISD2):c.358T>C (p.Leu120=) | single nucleotide variant | not specified [RCV000124312] | Chr4:102887380 [GRCh38] Chr4:103808537 [GRCh37] Chr4:4q24 |
benign |
NM_001008388.4(CISD2):c.(104_304)-84_318+724del | deletion | Wolfram syndrome 2 [RCV000144239] | Chr4:102885416..102886154 [GRCh38] Chr4:4q24 |
pathogenic |
NM_139173.4(SLC9B1):c.1108A>G (p.Thr370Ala) | single nucleotide variant | Inborn genetic diseases [RCV003244323] | Chr4:102906623 [GRCh38] Chr4:103827780 [GRCh37] Chr4:4q24 |
likely benign |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 | copy number gain | See cases [RCV000446653] | Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_001008388.5(CISD2):c.224T>C (p.Ile75Thr) | single nucleotide variant | not provided [RCV000425287] | Chr4:102885336 [GRCh38] Chr4:103806493 [GRCh37] Chr4:4q24 |
uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) | copy number gain | See cases [RCV000510453] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 | copy number gain | See cases [RCV000510970] | Chr4:93071152..190957473 [GRCh37] Chr4:4q22.1-35.2 |
pathogenic |
NM_139173.4(SLC9B1):c.127A>G (p.Thr43Ala) | single nucleotide variant | Inborn genetic diseases [RCV003281787] | Chr4:102989884 [GRCh38] Chr4:103911041 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_001008388.5(CISD2):c.319-20T>C | single nucleotide variant | Wolfram syndrome 2 [RCV002498907]|not provided [RCV001402699]|not specified [RCV000613284] | Chr4:102887321 [GRCh38] Chr4:103808478 [GRCh37] Chr4:4q24 |
likely benign |
NM_139173.4(SLC9B1):c.1333G>C (p.Ala445Pro) | single nucleotide variant | Inborn genetic diseases [RCV003274697] | Chr4:102901332 [GRCh38] Chr4:103822489 [GRCh37] Chr4:4q24 |
uncertain significance |
NC_000004.11:g.(103790345_103806372)_(103813965_?)del | deletion | Wolfram syndrome 2 [RCV003317783] | Chr4:103806372..103813965 [GRCh37] Chr4:4q24 |
pathogenic |
NM_001008388.5(CISD2):c.336T>C (p.Gly112=) | single nucleotide variant | not specified [RCV000612084] | Chr4:102887358 [GRCh38] Chr4:103808515 [GRCh37] Chr4:4q24 |
likely benign |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 | copy number gain | See cases [RCV000512241] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q24(chr4:103846070-104693179)x3 | copy number gain | not provided [RCV000682438] | Chr4:103846070..104693179 [GRCh37] Chr4:4q24 |
uncertain significance |
GRCh37/hg19 4q24(chr4:103800194-103870091)x3 | copy number gain | not provided [RCV000743879] | Chr4:103800194..103870091 [GRCh37] Chr4:4q24 |
benign |
GRCh37/hg19 4q24(chr4:103802242-103813594)x3 | copy number gain | not provided [RCV000743880] | Chr4:103802242..103813594 [GRCh37] Chr4:4q24 |
benign |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 | copy number gain | not provided [RCV000743155] | Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 | copy number gain | not provided [RCV000743156] | Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 | copy number gain | not provided [RCV000743147] | Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_001008388.5(CISD2):c.294T>C (p.Tyr98=) | single nucleotide variant | not provided [RCV000921601] | Chr4:102885406 [GRCh38] Chr4:103806563 [GRCh37] Chr4:4q24 |
likely benign |
GRCh37/hg19 4q24(chr4:103900089-103940328)x1 | copy number loss | not provided [RCV000845649] | Chr4:103900089..103940328 [GRCh37] Chr4:4q24 |
uncertain significance |
GRCh37/hg19 4q24(chr4:103865132-105720367)x1 | copy number loss | not provided [RCV001005582] | Chr4:103865132..105720367 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_139173.4(SLC9B1):c.769A>G (p.Met257Val) | single nucleotide variant | Inborn genetic diseases [RCV003241111] | Chr4:102932184 [GRCh38] Chr4:103853341 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_001008388.5(CISD2):c.170G>A (p.Arg57His) | single nucleotide variant | not provided [RCV003122002] | Chr4:102885282 [GRCh38] Chr4:103806439 [GRCh37] Chr4:4q24 |
uncertain significance |
NC_000004.11:g.(?_102001669)_(103806607_?)del | deletion | not provided [RCV003105379] | Chr4:102001669..103806607 [GRCh37] Chr4:4q24 |
pathogenic |
NC_000004.11:g.(?_101947022)_(106061534_?)del | deletion | not provided [RCV003107794] | Chr4:101947022..106061534 [GRCh37] Chr4:4q24 |
pathogenic |
NM_001008388.5(CISD2):c.104-9C>A | single nucleotide variant | Wolfram syndrome 2 [RCV002501449]|not provided [RCV000889624] | Chr4:102885207 [GRCh38] Chr4:103806364 [GRCh37] Chr4:4q24 |
benign|likely benign |
GRCh37/hg19 4q24(chr4:102851823-104641864) | copy number loss | Immunodeficiency, common variable, 12 [RCV002280616] | Chr4:102851823..104641864 [GRCh37] Chr4:4q24 |
likely pathogenic |
NM_001008388.5(CISD2):c.*79C>A | single nucleotide variant | not provided [RCV001355153] | Chr4:102887509 [GRCh38] Chr4:103808666 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_001008388.5(CISD2):c.318+20G>A | single nucleotide variant | not provided [RCV001519809] | Chr4:102885450 [GRCh38] Chr4:103806607 [GRCh37] Chr4:4q24 |
benign |
NC_000004.11:g.(?_101947022)_(104640832_?)del | deletion | Beta-D-mannosidosis [RCV001946800]|not provided [RCV003107924] | Chr4:101947022..104640832 [GRCh37] Chr4:4q24 |
pathogenic|no classifications from unflagged records |
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 | copy number gain | not provided [RCV001827738] | Chr4:52866944..143582507 [GRCh37] Chr4:4q12-31.21 |
pathogenic |
NM_001008388.5(CISD2):c.227A>T (p.Gln76Leu) | single nucleotide variant | not provided [RCV002011895] | Chr4:102885339 [GRCh38] Chr4:103806496 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_001008388.5(CISD2):c.403G>A (p.Val135Ile) | single nucleotide variant | Inborn genetic diseases [RCV003289108]|not provided [RCV002029995] | Chr4:102887425 [GRCh38] Chr4:103808582 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_001008388.5(CISD2):c.239C>T (p.Pro80Leu) | single nucleotide variant | Wolfram syndrome 2 [RCV002479565]|not provided [RCV002012136] | Chr4:102885351 [GRCh38] Chr4:103806508 [GRCh37] Chr4:4q24 |
uncertain significance |
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3 | copy number gain | not provided [RCV001827745] | Chr4:95490755..109977216 [GRCh37] Chr4:4q22.3-25 |
likely pathogenic |
NM_001008388.5(CISD2):c.182C>T (p.Pro61Leu) | single nucleotide variant | not provided [RCV001923813] | Chr4:102885294 [GRCh38] Chr4:103806451 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_001008388.5(CISD2):c.298A>G (p.Arg100Gly) | single nucleotide variant | not provided [RCV001903583] | Chr4:102885410 [GRCh38] Chr4:103806567 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_001008388.5(CISD2):c.325G>A (p.Ala109Thr) | single nucleotide variant | not provided [RCV001907684] | Chr4:102887347 [GRCh38] Chr4:103808504 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_001008388.5(CISD2):c.393G>A (p.Lys131=) | single nucleotide variant | not provided [RCV002131887] | Chr4:102887415 [GRCh38] Chr4:103808572 [GRCh37] Chr4:4q24 |
likely benign |
NM_001008388.5(CISD2):c.104-10A>G | single nucleotide variant | not provided [RCV002176938] | Chr4:102885206 [GRCh38] Chr4:103806363 [GRCh37] Chr4:4q24 |
likely benign |
NM_001008388.5(CISD2):c.396G>A (p.Lys132=) | single nucleotide variant | not provided [RCV002157261] | Chr4:102887418 [GRCh38] Chr4:103808575 [GRCh37] Chr4:4q24 |
likely benign |
NM_001008388.5(CISD2):c.120G>A (p.Arg40=) | single nucleotide variant | not provided [RCV002191729] | Chr4:102885232 [GRCh38] Chr4:103806389 [GRCh37] Chr4:4q24 |
likely benign |
NM_001008388.5(CISD2):c.318+17C>T | single nucleotide variant | not provided [RCV002150915] | Chr4:102885447 [GRCh38] Chr4:103806604 [GRCh37] Chr4:4q24 |
likely benign |
NM_139173.4(SLC9B1):c.1145G>A (p.Gly382Asp) | single nucleotide variant | Inborn genetic diseases [RCV002865091] | Chr4:102906586 [GRCh38] Chr4:103827743 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_001008388.5(CISD2):c.144C>T (p.Leu48=) | single nucleotide variant | not provided [RCV002616310] | Chr4:102885256 [GRCh38] Chr4:103806413 [GRCh37] Chr4:4q24 |
likely benign |
NM_139173.4(SLC9B1):c.1007G>A (p.Arg336His) | single nucleotide variant | Inborn genetic diseases [RCV002816762] | Chr4:102910518 [GRCh38] Chr4:103831675 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_139173.4(SLC9B1):c.794G>C (p.Gly265Ala) | single nucleotide variant | Inborn genetic diseases [RCV002689822] | Chr4:102932159 [GRCh38] Chr4:103853316 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_139173.4(SLC9B1):c.682G>A (p.Val228Ile) | single nucleotide variant | Inborn genetic diseases [RCV002727429] | Chr4:102932271 [GRCh38] Chr4:103853428 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_001008388.5(CISD2):c.235A>T (p.Asn79Tyr) | single nucleotide variant | not provided [RCV002662382] | Chr4:102885347 [GRCh38] Chr4:103806504 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_139173.4(SLC9B1):c.364C>T (p.Pro122Ser) | single nucleotide variant | Inborn genetic diseases [RCV002704180] | Chr4:102949275 [GRCh38] Chr4:103870432 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_001008388.5(CISD2):c.228A>G (p.Gln76=) | single nucleotide variant | not provided [RCV003039126] | Chr4:102885340 [GRCh38] Chr4:103806497 [GRCh37] Chr4:4q24 |
likely benign |
NM_001008388.5(CISD2):c.264T>A (p.Ile88=) | single nucleotide variant | not provided [RCV002658938] | Chr4:102885376 [GRCh38] Chr4:103806533 [GRCh37] Chr4:4q24 |
likely benign |
NM_139173.4(SLC9B1):c.320T>C (p.Ile107Thr) | single nucleotide variant | Inborn genetic diseases [RCV002845404] | Chr4:102949319 [GRCh38] Chr4:103870476 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_139173.4(SLC9B1):c.1005A>T (p.Gln335His) | single nucleotide variant | Inborn genetic diseases [RCV002868318] | Chr4:102910520 [GRCh38] Chr4:103831677 [GRCh37] Chr4:4q24 |
likely benign |
NM_001008388.5(CISD2):c.204T>C (p.Asp68=) | single nucleotide variant | not provided [RCV002824630] | Chr4:102885316 [GRCh38] Chr4:103806473 [GRCh37] Chr4:4q24 |
likely benign |
NM_001008388.5(CISD2):c.226C>A (p.Gln76Lys) | single nucleotide variant | not provided [RCV003037770] | Chr4:102885338 [GRCh38] Chr4:103806495 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_139173.4(SLC9B1):c.97C>T (p.Gln33Ter) | single nucleotide variant | Inborn genetic diseases [RCV002978114] | Chr4:102989914 [GRCh38] Chr4:103911071 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_139173.4(SLC9B1):c.104A>C (p.Glu35Ala) | single nucleotide variant | Inborn genetic diseases [RCV002853515] | Chr4:102989907 [GRCh38] Chr4:103911064 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_001008388.5(CISD2):c.142C>T (p.Leu48Phe) | single nucleotide variant | not provided [RCV002791521] | Chr4:102885254 [GRCh38] Chr4:103806411 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_139173.4(SLC9B1):c.487A>G (p.Ile163Val) | single nucleotide variant | Inborn genetic diseases [RCV003004047] | Chr4:102946685 [GRCh38] Chr4:103867842 [GRCh37] Chr4:4q24 |
likely benign |
NM_139173.4(SLC9B1):c.730G>A (p.Glu244Lys) | single nucleotide variant | Inborn genetic diseases [RCV002986855] | Chr4:102932223 [GRCh38] Chr4:103853380 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_001008388.5(CISD2):c.318+19T>C | single nucleotide variant | not provided [RCV003007511] | Chr4:102885449 [GRCh38] Chr4:103806606 [GRCh37] Chr4:4q24 |
likely benign |
NM_001008388.5(CISD2):c.183G>A (p.Pro61=) | single nucleotide variant | not provided [RCV002632016] | Chr4:102885295 [GRCh38] Chr4:103806452 [GRCh37] Chr4:4q24 |
likely benign |
NM_001008388.5(CISD2):c.300G>A (p.Arg100=) | single nucleotide variant | not provided [RCV002597914] | Chr4:102885412 [GRCh38] Chr4:103806569 [GRCh37] Chr4:4q24 |
likely benign |
NM_001008388.5(CISD2):c.318+16A>T | single nucleotide variant | not provided [RCV003066132] | Chr4:102885446 [GRCh38] Chr4:103806603 [GRCh37] Chr4:4q24 |
likely benign |
NM_001008388.5(CISD2):c.118C>T (p.Arg40Trp) | single nucleotide variant | not provided [RCV003050039] | Chr4:102885230 [GRCh38] Chr4:103806387 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_139173.4(SLC9B1):c.517G>C (p.Asp173His) | single nucleotide variant | Inborn genetic diseases [RCV002656152] | Chr4:102946655 [GRCh38] Chr4:103867812 [GRCh37] Chr4:4q24 |
uncertain significance |
NC_000004.11:g.(?_101947022)_(107268849_?)dup | duplication | not provided [RCV003154901] | Chr4:101947022..107268849 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_139173.4(SLC9B1):c.724G>A (p.Gly242Ser) | single nucleotide variant | Inborn genetic diseases [RCV003212526] | Chr4:102932229 [GRCh38] Chr4:103853386 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_139173.4(SLC9B1):c.115G>T (p.Val39Phe) | single nucleotide variant | Inborn genetic diseases [RCV003308726] | Chr4:102989896 [GRCh38] Chr4:103911053 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_139173.4(SLC9B1):c.541A>G (p.Lys181Glu) | single nucleotide variant | Inborn genetic diseases [RCV003262572] | Chr4:102945305 [GRCh38] Chr4:103866462 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_139173.4(SLC9B1):c.517G>A (p.Asp173Asn) | single nucleotide variant | Inborn genetic diseases [RCV003376516] | Chr4:102946655 [GRCh38] Chr4:103867812 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_139173.4(SLC9B1):c.155A>G (p.Lys52Arg) | single nucleotide variant | Inborn genetic diseases [RCV003374184] | Chr4:102989856 [GRCh38] Chr4:103911013 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_139173.4(SLC9B1):c.71G>C (p.Ser24Thr) | single nucleotide variant | Inborn genetic diseases [RCV003374850] | Chr4:102989940 [GRCh38] Chr4:103911097 [GRCh37] Chr4:4q24 |
uncertain significance |
NM_001008388.5(CISD2):c.318+18G>A | single nucleotide variant | not provided [RCV003660282] | Chr4:102885448 [GRCh38] Chr4:103806605 [GRCh37] Chr4:4q24 |
likely benign |
NM_139173.4(SLC9B1):c.1338_1339del (p.Leu447fs) | microsatellite | Usher syndrome [RCV003389545] | Chr4:102901326..102901327 [GRCh38] Chr4:103822483..103822484 [GRCh37] Chr4:4q24 |
pathogenic |
NM_139173.4(SLC9B1):c.804A>G (p.Thr268=) | single nucleotide variant | not provided [RCV003439437] | Chr4:102932149 [GRCh38] Chr4:103853306 [GRCh37] Chr4:4q24 |
likely benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
D4S246 |
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WI-22115 |
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GDB:335751 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 1 | 1 | 1 | 355 | ||||||||||||||
Low | 622 | 609 | 975 | 74 | 983 | 66 | 2187 | 280 | 2081 | 182 | 698 | 892 | 15 | 1 | 786 | 1211 | 3 | 1 |
Below cutoff | 1812 | 2308 | 748 | 548 | 905 | 398 | 2133 | 1871 | 1652 | 233 | 398 | 717 | 159 | 418 | 1542 | 3 |
RefSeq Transcripts | NG_008662 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001100874 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_139173 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_047513 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_047515 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC018797 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC083826 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC097485 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF213884 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF447585 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK313592 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY461581 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC022079 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC046636 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC110794 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC132712 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC136966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC144443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471057 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB526003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ003059 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HM005440 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000296422 ⟹ ENSP00000296422 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000394789 ⟹ ENSP00000378269 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000503584 ⟹ ENSP00000426926 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000504216 ⟹ ENSP00000423072 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000509614 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000510243 ⟹ ENSP00000425913 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000510559 ⟹ ENSP00000426325 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000511253 ⟹ ENSP00000425544 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000512651 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000514340 ⟹ ENSP00000426056 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000514972 ⟹ ENSP00000426584 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001100874 ⟹ NP_001094344 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_139173 ⟹ NP_631912 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_047513 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_047515 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001094344 | (Get FASTA) | NCBI Sequence Viewer |
NP_631912 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAI10795 | (Get FASTA) | NCBI Sequence Viewer |
AAI32713 | (Get FASTA) | NCBI Sequence Viewer | |
AAI36967 | (Get FASTA) | NCBI Sequence Viewer | |
AAM22868 | (Get FASTA) | NCBI Sequence Viewer | |
AAS91021 | (Get FASTA) | NCBI Sequence Viewer | |
AAY21808 | (Get FASTA) | NCBI Sequence Viewer | |
AEE61038 | (Get FASTA) | NCBI Sequence Viewer | |
BAG36359 | (Get FASTA) | NCBI Sequence Viewer | |
EAX06152 | (Get FASTA) | NCBI Sequence Viewer | |
EAX06153 | (Get FASTA) | NCBI Sequence Viewer | |
EAX06154 | (Get FASTA) | NCBI Sequence Viewer | |
EAX06155 | (Get FASTA) | NCBI Sequence Viewer | |
EAX06156 | (Get FASTA) | NCBI Sequence Viewer | |
EAX06157 | (Get FASTA) | NCBI Sequence Viewer | |
EAX06158 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000296422 | ||
ENSP00000296422.7 | |||
ENSP00000378269 | |||
ENSP00000378269.3 | |||
ENSP00000423072.1 | |||
ENSP00000425544.1 | |||
ENSP00000425913.1 | |||
ENSP00000426056.1 | |||
ENSP00000426325.1 | |||
ENSP00000426584.1 | |||
ENSP00000426926.1 | |||
GenBank Protein | Q4ZJI4 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001094344 ⟸ NM_001100874 |
- Peptide Label: | isoform 2 |
- UniProtKB: | A0A140VJQ1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_631912 ⟸ NM_139173 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q8NCV2 (UniProtKB/Swiss-Prot), Q4ZJI4 (UniProtKB/Swiss-Prot), Q49A30 (UniProtKB/Swiss-Prot), C9JBP7 (UniProtKB/Swiss-Prot), B9EH04 (UniProtKB/Swiss-Prot), A1KXV1 (UniProtKB/Swiss-Prot), Q8WVZ0 (UniProtKB/Swiss-Prot), A0A140VJQ1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000426926 ⟸ ENST00000503584 |
RefSeq Acc Id: | ENSP00000423072 ⟸ ENST00000504216 |
RefSeq Acc Id: | ENSP00000296422 ⟸ ENST00000296422 |
RefSeq Acc Id: | ENSP00000425913 ⟸ ENST00000510243 |
RefSeq Acc Id: | ENSP00000426325 ⟸ ENST00000510559 |
RefSeq Acc Id: | ENSP00000425544 ⟸ ENST00000511253 |
RefSeq Acc Id: | ENSP00000378269 ⟸ ENST00000394789 |
RefSeq Acc Id: | ENSP00000426056 ⟸ ENST00000514340 |
RefSeq Acc Id: | ENSP00000426584 ⟸ ENST00000514972 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q4ZJI4-F1-model_v2 | AlphaFold | Q4ZJI4 | 1-515 | view protein structure |
RGD ID: | 6868172 | ||||||||
Promoter ID: | EPDNEW_H7251 | ||||||||
Type: | initiation region | ||||||||
Name: | SLC9B1_1 | ||||||||
Description: | solute carrier family 9 member B1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6802502 | ||||||||
Promoter ID: | HG_KWN:48831 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_001100874, NM_139173, UC003HWV.2, UC010ILM.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:24244 | AgrOrtholog |
COSMIC | SLC9B1 | COSMIC |
Ensembl Genes | ENSG00000164037 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000296422 | ENTREZGENE |
ENST00000296422.12 | UniProtKB/Swiss-Prot | |
ENST00000394789 | ENTREZGENE | |
ENST00000394789.7 | UniProtKB/Swiss-Prot | |
ENST00000503584 | ENTREZGENE | |
ENST00000503584.5 | UniProtKB/Swiss-Prot | |
ENST00000504216.5 | UniProtKB/TrEMBL | |
ENST00000510243.5 | UniProtKB/Swiss-Prot | |
ENST00000510559.1 | UniProtKB/TrEMBL | |
ENST00000511253.1 | UniProtKB/TrEMBL | |
ENST00000514340.5 | UniProtKB/TrEMBL | |
ENST00000514972 | ENTREZGENE | |
ENST00000514972.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.1530.20 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000164037 | GTEx |
HGNC ID | HGNC:24244 | ENTREZGENE |
Human Proteome Map | SLC9B1 | Human Proteome Map |
InterPro | Cation/H_exchanger | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Na+/solute_symporter_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:150159 | UniProtKB/Swiss-Prot |
NCBI Gene | 150159 | ENTREZGENE |
OMIM | 611527 | OMIM |
PANTHER | PTHR31102 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR31102:SF5 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Na_H_Exchanger | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA162397486 | PharmGKB |
UniProt | A0A140VJQ1 | ENTREZGENE, UniProtKB/TrEMBL |
A1KXV1 | ENTREZGENE | |
B9EH04 | ENTREZGENE | |
C9JBP7 | ENTREZGENE | |
D6RA80_HUMAN | UniProtKB/TrEMBL | |
D6RFK4_HUMAN | UniProtKB/TrEMBL | |
D6RGI9_HUMAN | UniProtKB/TrEMBL | |
D6RHJ0_HUMAN | UniProtKB/TrEMBL | |
H0Y9Z0_HUMAN | UniProtKB/TrEMBL | |
Q49A30 | ENTREZGENE | |
Q4ZJI4 | ENTREZGENE | |
Q8NCV2 | ENTREZGENE | |
Q8WVZ0 | ENTREZGENE | |
SL9B1_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | A1KXV1 | UniProtKB/Swiss-Prot |
B9EH04 | UniProtKB/Swiss-Prot | |
C9JBP7 | UniProtKB/Swiss-Prot | |
Q49A30 | UniProtKB/Swiss-Prot | |
Q8NCV2 | UniProtKB/Swiss-Prot | |
Q8WVZ0 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-02-23 | SLC9B1 | solute carrier family 9 member B1 | SLC9B1 | solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 | Symbol and/or name change | 5135510 | APPROVED |
2012-03-27 | SLC9B1 | solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 | SLC9B1 | solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 | Symbol and/or name change | 5135510 | APPROVED |
2011-08-02 | SLC9B1 | solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 | NHEDC1 | Na+/H+ exchanger domain containing 1 | Symbol and/or name change | 5135510 | APPROVED |