Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | FIBP | Human | THAUVIN-ROBINET-FAIVRE SYNDROME | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | FIBP | Human | THAUVIN-ROBINET-FAIVRE SYNDROME | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8125298 | PMID:9806903 | PMID:11104667 | PMID:11509569 | PMID:12145206 | PMID:12477932 | PMID:15489334 | PMID:16169070 | PMID:17353931 | PMID:17497037 | PMID:19913121 | PMID:20628086 |
PMID:21832049 | PMID:21873635 | PMID:21900206 | PMID:23128233 | PMID:23376485 | PMID:23382103 | PMID:23455922 | PMID:23602568 | PMID:24927181 | PMID:25096995 | PMID:25544563 | PMID:25648896 |
PMID:25852190 | PMID:25940091 | PMID:26186194 | PMID:26496610 | PMID:27183861 | PMID:28514442 | PMID:28973437 | PMID:29395067 | PMID:29513927 | PMID:29576527 | PMID:30404004 | PMID:31753913 |
PMID:31871319 | PMID:32694731 | PMID:32707033 | PMID:33961781 | PMID:35063084 | PMID:35256949 | PMID:35914814 | PMID:36215168 | PMID:36736316 | PMID:37564211 | PMID:37827155 | PMID:37876348 |
FIBP (Homo sapiens - human) |
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Fibp (Mus musculus - house mouse) |
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Fibp (Rattus norvegicus - Norway rat) |
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Fibp (Chinchilla lanigera - long-tailed chinchilla) |
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FIBP (Pan paniscus - bonobo/pygmy chimpanzee) |
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FIBP (Canis lupus familiaris - dog) |
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Fibp (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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FIBP (Sus scrofa - pig) |
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FIBP (Chlorocebus sabaeus - green monkey) |
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Fibp (Heterocephalus glaber - naked mole-rat) |
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Variants in FIBP
48 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 11q13.1(chr11:65881597-65893890)x3 | copy number gain | See cases [RCV000051909] | Chr11:65881597..65893890 [GRCh38] Chr11:65649068..65661361 [GRCh37] Chr11:65405644..65417937 [NCBI36] Chr11:11q13.1 |
uncertain significance |
Single allele | deletion | Intellectual disability [RCV001293382] | Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1 | copy number loss | See cases [RCV000142881] | Chr11:65741431..67705669 [GRCh38] Chr11:65508902..67473140 [GRCh37] Chr11:65265478..67229716 [NCBI36] Chr11:11q13.1-13.2 |
pathogenic |
NM_004214.5(FIBP):c.652C>T (p.Gln218Ter) | single nucleotide variant | Congenital ocular coloboma [RCV000169762]|Tall stature-intellectual disability-renal anomalies syndrome [RCV000240847] | Chr11:65885181 [GRCh38] Chr11:65652652 [GRCh37] Chr11:11q13.1 |
pathogenic|likely pathogenic|likely benign |
FIBP, GLN218TER | single nucleotide variant | THAUVIN-ROBINET-FAIVRE SYNDROME [RCV000240847] | Chr11:11q13.1 | pathogenic |
NM_004214.5(FIBP):c.175_176insTAA (p.His59delinsLeuAsn) | insertion | Tall stature-intellectual disability-renal anomalies syndrome [RCV000240848] | Chr11:65888042..65888043 [GRCh38] Chr11:65655513..65655514 [GRCh37] Chr11:11q13.1 |
pathogenic |
NM_004214.5(FIBP):c.490del (p.Leu164fs) | deletion | not provided [RCV000523729] | Chr11:65886344 [GRCh38] Chr11:65653815 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.86-2A>C | single nucleotide variant | not provided [RCV000522065] | Chr11:65888134 [GRCh38] Chr11:65655605 [GRCh37] Chr11:11q13.1 |
uncertain significance |
GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3 | copy number gain | See cases [RCV000511632] | Chr11:64501919..67129258 [GRCh37] Chr11:11q13.1-13.2 |
likely pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) | copy number gain | See cases [RCV000511729] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 | copy number gain | See cases [RCV000510881] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_004214.5(FIBP):c.589G>A (p.Gly197Ser) | single nucleotide variant | Inborn genetic diseases [RCV003256600] | Chr11:65885587 [GRCh38] Chr11:65653058 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.196C>T (p.Leu66Phe) | single nucleotide variant | Inborn genetic diseases [RCV003257018] | Chr11:65888022 [GRCh38] Chr11:65655493 [GRCh37] Chr11:11q13.1 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 | copy number gain | not provided [RCV000737348] | Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 | copy number gain | not provided [RCV000749874] | Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_004214.5(FIBP):c.645C>T (p.Val215=) | single nucleotide variant | not provided [RCV000962177] | Chr11:65885531 [GRCh38] Chr11:65653002 [GRCh37] Chr11:11q13.1 |
benign |
NM_004214.5(FIBP):c.561G>A (p.Gly187=) | single nucleotide variant | FIBP-related disorder [RCV003940395]|not provided [RCV000879995] | Chr11:65885615 [GRCh38] Chr11:65653086 [GRCh37] Chr11:11q13.1 |
likely benign |
NM_004214.5(FIBP):c.897C>T (p.Leu299=) | single nucleotide variant | FIBP-related disorder [RCV003897946]|not provided [RCV000965843] | Chr11:65884579 [GRCh38] Chr11:65652050 [GRCh37] Chr11:11q13.1 |
benign|likely benign |
NM_004214.5(FIBP):c.24C>T (p.Phe8=) | single nucleotide variant | not provided [RCV000981320] | Chr11:65888395 [GRCh38] Chr11:65655866 [GRCh37] Chr11:11q13.1 |
likely benign |
NM_004214.5(FIBP):c.219G>T (p.Pro73=) | single nucleotide variant | not provided [RCV000883980] | Chr11:65887999 [GRCh38] Chr11:65655470 [GRCh37] Chr11:11q13.1 |
benign|likely benign |
NM_004214.5(FIBP):c.21C>T (p.Ile7=) | single nucleotide variant | not provided [RCV000921839] | Chr11:65888398 [GRCh38] Chr11:65655869 [GRCh37] Chr11:11q13.1 |
likely benign |
NM_004214.5(FIBP):c.789C>T (p.Gly263=) | single nucleotide variant | not provided [RCV000904839] | Chr11:65884965 [GRCh38] Chr11:65652436 [GRCh37] Chr11:11q13.1 |
likely benign |
NM_004214.5(FIBP):c.1030A>G (p.Met344Val) | single nucleotide variant | not provided [RCV000879655] | Chr11:65884018 [GRCh38] Chr11:65651489 [GRCh37] Chr11:11q13.1 |
benign |
GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402) | copy number gain | not provided [RCV000767601] | Chr11:65138976..67574402 [GRCh37] Chr11:11q13.1-13.2 |
pathogenic |
NM_004214.5(FIBP):c.720A>T (p.Leu240=) | single nucleotide variant | not provided [RCV000962176] | Chr11:65885113 [GRCh38] Chr11:65652584 [GRCh37] Chr11:11q13.1 |
benign |
NM_004214.5(FIBP):c.1044C>T (p.Arg348=) | single nucleotide variant | not provided [RCV000964141] | Chr11:65884004 [GRCh38] Chr11:65651475 [GRCh37] Chr11:11q13.1 |
likely benign |
NM_004214.5(FIBP):c.1005-10G>A | single nucleotide variant | not provided [RCV000967764] | Chr11:65884053 [GRCh38] Chr11:65651524 [GRCh37] Chr11:11q13.1 |
benign |
NM_004214.5(FIBP):c.412-11C>G | single nucleotide variant | Tall stature-intellectual disability-renal anomalies syndrome [RCV000985021] | Chr11:65886433 [GRCh38] Chr11:65653904 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NC_000011.9:g.(?_65633902)_(66115026_?)dup | duplication | Cutis laxa, autosomal recessive, type 1B [RCV000798155] | Chr11:65866431..66347555 [GRCh38] Chr11:65633902..66115026 [GRCh37] Chr11:11q13.1-13.2 |
uncertain significance |
NM_004214.5(FIBP):c.1024C>T (p.Arg342Cys) | single nucleotide variant | Inborn genetic diseases [RCV003291449] | Chr11:65884024 [GRCh38] Chr11:65651495 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NC_000011.9:g.(?_64973914)_(70052579_?)dup | duplication | Aicardi-Goutieres syndrome 3 [RCV003113322]|FADD-related immunodeficiency [RCV003107753] | Chr11:64973914..70052579 [GRCh37] Chr11:11q13.1-13.3 |
uncertain significance |
NM_004214.5(FIBP):c.1004+33T>C | single nucleotide variant | Tall stature-intellectual disability-renal anomalies syndrome [RCV001702328] | Chr11:65884359 [GRCh38] Chr11:65651830 [GRCh37] Chr11:11q13.1 |
benign |
NM_004214.5(FIBP):c.960C>T (p.Phe320=) | single nucleotide variant | not provided [RCV000914562] | Chr11:65884436 [GRCh38] Chr11:65651907 [GRCh37] Chr11:11q13.1 |
likely benign |
NM_004214.5(FIBP):c.150G>C (p.Ala50=) | single nucleotide variant | not provided [RCV000962178] | Chr11:65888068 [GRCh38] Chr11:65655539 [GRCh37] Chr11:11q13.1 |
benign |
NM_004214.5(FIBP):c.123C>G (p.Ile41Met) | single nucleotide variant | not provided [RCV000913920] | Chr11:65888095 [GRCh38] Chr11:65655566 [GRCh37] Chr11:11q13.1 |
likely benign |
NM_004214.5(FIBP):c.297T>C (p.Phe99=) | single nucleotide variant | not provided [RCV000935185] | Chr11:65887714 [GRCh38] Chr11:65655185 [GRCh37] Chr11:11q13.1 |
likely benign |
NM_004214.5(FIBP):c.944G>T (p.Ser315Ile) | single nucleotide variant | Inborn genetic diseases [RCV003253180] | Chr11:65884452 [GRCh38] Chr11:65651923 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.263G>A (p.Arg88Gln) | single nucleotide variant | Inborn genetic diseases [RCV003294773] | Chr11:65887955 [GRCh38] Chr11:65655426 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.1064A>G (p.Tyr355Cys) | single nucleotide variant | Inborn genetic diseases [RCV003294822] | Chr11:65883984 [GRCh38] Chr11:65651455 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.1004G>C (p.Arg335Pro) | single nucleotide variant | Tall stature-intellectual disability-renal anomalies syndrome [RCV001336154] | Chr11:65884392 [GRCh38] Chr11:65651863 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NC_000011.9:g.(?_59596957)_(68707199_?)dup | duplication | Familial temporal lobe epilepsy 8 [RCV001372442] | Chr11:59596957..68707199 [GRCh37] Chr11:11q12.1-13.3 |
uncertain significance |
NC_000011.9:g.(?_65633902)_(66115026_?)dup | duplication | Autosomal recessive cutis laxa type 1B [RCV001305354] | Chr11:65633902..66115026 [GRCh37] Chr11:11q13.1-13.2 |
uncertain significance |
NM_004214.5(FIBP):c.668A>G (p.Asp223Gly) | single nucleotide variant | Tall stature-intellectual disability-renal anomalies syndrome [RCV001336155] | Chr11:65885165 [GRCh38] Chr11:65652636 [GRCh37] Chr11:11q13.1 |
uncertain significance |
GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514) | copy number loss | not specified [RCV002052930] | Chr11:64935724..66405514 [GRCh37] Chr11:11q13.1-13.2 |
uncertain significance |
NC_000011.9:g.(?_64522783)_(66283694_?)del | deletion | Bardet-Biedl syndrome [RCV002014493]|Glycogen storage disease, type V [RCV002004587] | Chr11:64522783..66283694 [GRCh37] Chr11:11q13.1-13.2 |
pathogenic |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 | copy number gain | MISSED ABORTION [RCV002282973] | Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
NM_004214.5(FIBP):c.166A>G (p.Thr56Ala) | single nucleotide variant | Inborn genetic diseases [RCV002793905] | Chr11:65888052 [GRCh38] Chr11:65655523 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.1021G>C (p.Asp341His) | single nucleotide variant | Inborn genetic diseases [RCV002817458] | Chr11:65884027 [GRCh38] Chr11:65651498 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.214G>T (p.Ala72Ser) | single nucleotide variant | Inborn genetic diseases [RCV002906787] | Chr11:65888004 [GRCh38] Chr11:65655475 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.598G>C (p.Ala200Pro) | single nucleotide variant | Inborn genetic diseases [RCV002777239] | Chr11:65885578 [GRCh38] Chr11:65653049 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.385A>G (p.Ile129Val) | single nucleotide variant | Inborn genetic diseases [RCV002910726] | Chr11:65887626 [GRCh38] Chr11:65655097 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.827C>A (p.Ser276Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002692494] | Chr11:65884649 [GRCh38] Chr11:65652120 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.1042C>T (p.Arg348Cys) | single nucleotide variant | Inborn genetic diseases [RCV003000760] | Chr11:65884006 [GRCh38] Chr11:65651477 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.586T>G (p.Phe196Val) | single nucleotide variant | Inborn genetic diseases [RCV002768158] | Chr11:65885590 [GRCh38] Chr11:65653061 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.518A>G (p.Tyr173Cys) | single nucleotide variant | Inborn genetic diseases [RCV002788965] | Chr11:65885658 [GRCh38] Chr11:65653129 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.1055T>G (p.Leu352Arg) | single nucleotide variant | Inborn genetic diseases [RCV002765277] | Chr11:65883993 [GRCh38] Chr11:65651464 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.940C>T (p.Leu314Phe) | single nucleotide variant | Inborn genetic diseases [RCV003004027] | Chr11:65884456 [GRCh38] Chr11:65651927 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.628T>C (p.Trp210Arg) | single nucleotide variant | Inborn genetic diseases [RCV002939600] | Chr11:65885548 [GRCh38] Chr11:65653019 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.949G>A (p.Val317Met) | single nucleotide variant | Inborn genetic diseases [RCV003190846] | Chr11:65884447 [GRCh38] Chr11:65651918 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.926C>T (p.Ser309Phe) | single nucleotide variant | Inborn genetic diseases [RCV003204490] | Chr11:65884470 [GRCh38] Chr11:65651941 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.214G>A (p.Ala72Thr) | single nucleotide variant | Inborn genetic diseases [RCV003212722] | Chr11:65888004 [GRCh38] Chr11:65655475 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.665T>G (p.Met222Arg) | single nucleotide variant | Inborn genetic diseases [RCV003386390] | Chr11:65885168 [GRCh38] Chr11:65652639 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.973T>G (p.Ser325Ala) | single nucleotide variant | Inborn genetic diseases [RCV003366708] | Chr11:65884423 [GRCh38] Chr11:65651894 [GRCh37] Chr11:11q13.1 |
uncertain significance |
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 | copy number gain | not provided [RCV003484842] | Chr11:59923608..76272324 [GRCh37] Chr11:11q12.2-13.5 |
pathogenic |
NM_004214.5(FIBP):c.525C>T (p.Ala175=) | single nucleotide variant | not provided [RCV003398008] | Chr11:65885651 [GRCh38] Chr11:65653122 [GRCh37] Chr11:11q13.1 |
likely benign |
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 | copy number gain | not specified [RCV003986944] | Chr11:56895955..69295402 [GRCh37] Chr11:11q12.1-13.3 |
likely pathogenic |
NM_004214.5(FIBP):c.747del (p.His250fs) | deletion | Tall stature-intellectual disability-renal anomalies syndrome [RCV003989356] | Chr11:65885086 [GRCh38] Chr11:65652557 [GRCh37] Chr11:11q13.1 |
likely pathogenic |
NM_004214.5(FIBP):c.558_559del (p.Gly187fs) | deletion | Tall stature-intellectual disability-renal anomalies syndrome [RCV003989255] | Chr11:65885617..65885618 [GRCh38] Chr11:65653088..65653089 [GRCh37] Chr11:11q13.1 |
likely pathogenic |
NM_004214.5(FIBP):c.963G>A (p.Leu321=) | single nucleotide variant | FIBP-related disorder [RCV003951868] | Chr11:65884433 [GRCh38] Chr11:65651904 [GRCh37] Chr11:11q13.1 |
likely benign |
NM_004214.5(FIBP):c.234C>G (p.His78Gln) | single nucleotide variant | Inborn genetic diseases [RCV004386502] | Chr11:65887984 [GRCh38] Chr11:65655455 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.427C>T (p.Arg143Trp) | single nucleotide variant | Inborn genetic diseases [RCV004386504] | Chr11:65886407 [GRCh38] Chr11:65653878 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.455G>A (p.Arg152Gln) | single nucleotide variant | Inborn genetic diseases [RCV004386505] | Chr11:65886379 [GRCh38] Chr11:65653850 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.712A>C (p.Lys238Gln) | single nucleotide variant | Inborn genetic diseases [RCV004386506] | Chr11:65885121 [GRCh38] Chr11:65652592 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.917C>T (p.Pro306Leu) | single nucleotide variant | Inborn genetic diseases [RCV004386507] | Chr11:65884479 [GRCh38] Chr11:65651950 [GRCh37] Chr11:11q13.1 |
uncertain significance |
NM_004214.5(FIBP):c.675C>T (p.Asp225=) | single nucleotide variant | not provided [RCV004574980] | Chr11:65885158 [GRCh38] Chr11:65652629 [GRCh37] Chr11:11q13.1 |
likely benign |
NM_004214.5(FIBP):c.256C>G (p.Pro86Ala) | single nucleotide variant | Inborn genetic diseases [RCV004623505] | Chr11:65887962 [GRCh38] Chr11:65655433 [GRCh37] Chr11:11q13.1 |
uncertain significance |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
D11S3700 |
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D1S1423 |
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D11S4749 |
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SGC31923 |
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RH11778 |
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RefSeq Transcripts | NG_047103 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_004214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_198897 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024448763 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001748030 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008488492 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_950100 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF010187 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF171944 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF171945 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF171946 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF250391 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF250392 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI925637 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK223438 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK289562 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK293882 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK296571 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK299159 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK309974 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK315976 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AP001201 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AP006287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC014388 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC017448 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD109589 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471076 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR456749 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ388430 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000338369 ⟹ ENSP00000344572 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000357519 ⟹ ENSP00000350124 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000426652 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000442885 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000525765 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000528937 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000531115 ⟹ ENSP00000431457 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000532229 ⟹ ENSP00000433683 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000532679 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000532934 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000533037 ⟹ ENSP00000431414 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000533045 ⟹ ENSP00000434043 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000534032 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_004214 ⟹ NP_004205 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_198897 ⟹ NP_942600 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_008488492 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Protein RefSeqs | NP_004205 | (Get FASTA) | NCBI Sequence Viewer |
NP_942600 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC97140 | (Get FASTA) | NCBI Sequence Viewer |
AAD51694 | (Get FASTA) | NCBI Sequence Viewer | |
AAD51695 | (Get FASTA) | NCBI Sequence Viewer | |
AAD51696 | (Get FASTA) | NCBI Sequence Viewer | |
AAG01396 | (Get FASTA) | NCBI Sequence Viewer | |
AAG01397 | (Get FASTA) | NCBI Sequence Viewer | |
AAH14388 | (Get FASTA) | NCBI Sequence Viewer | |
AAH17448 | (Get FASTA) | NCBI Sequence Viewer | |
ABD48957 | (Get FASTA) | NCBI Sequence Viewer | |
BAD97158 | (Get FASTA) | NCBI Sequence Viewer | |
BAF82251 | (Get FASTA) | NCBI Sequence Viewer | |
BAG57271 | (Get FASTA) | NCBI Sequence Viewer | |
BAG59191 | (Get FASTA) | NCBI Sequence Viewer | |
BAG61207 | (Get FASTA) | NCBI Sequence Viewer | |
BAH14347 | (Get FASTA) | NCBI Sequence Viewer | |
CAG33030 | (Get FASTA) | NCBI Sequence Viewer | |
EAW74465 | (Get FASTA) | NCBI Sequence Viewer | |
EAW74466 | (Get FASTA) | NCBI Sequence Viewer | |
EAW74467 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000344572 | ||
ENSP00000344572.2 | |||
ENSP00000350124 | |||
ENSP00000350124.5 | |||
ENSP00000431414.1 | |||
ENSP00000431457.1 | |||
ENSP00000433683.1 | |||
ENSP00000434043.1 | |||
GenBank Protein | O43427 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_942600 ⟸ NM_198897 |
- Peptide Label: | isoform a |
- UniProtKB: | Q6IBQ3 (UniProtKB/Swiss-Prot), Q27Q85 (UniProtKB/Swiss-Prot), A8K0J7 (UniProtKB/Swiss-Prot), Q9HD65 (UniProtKB/Swiss-Prot), O43427 (UniProtKB/Swiss-Prot), Q53F51 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_004205 ⟸ NM_004214 |
- Peptide Label: | isoform b |
- UniProtKB: | Q53F51 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000431457 ⟸ ENST00000531115 |
Ensembl Acc Id: | ENSP00000433683 ⟸ ENST00000532229 |
Ensembl Acc Id: | ENSP00000434043 ⟸ ENST00000533045 |
Ensembl Acc Id: | ENSP00000431414 ⟸ ENST00000533037 |
Ensembl Acc Id: | ENSP00000344572 ⟸ ENST00000338369 |
Ensembl Acc Id: | ENSP00000350124 ⟸ ENST00000357519 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O43427-F1-model_v2 | AlphaFold | O43427 | 1-364 | view protein structure |
RGD ID: | 6815935 | ||||||||
Promoter ID: | HG_SPT:11136 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | AA166967, AA191454, AA358157, AA363385, AA393854, AA427881, AA490046, AA521391, AA551845, AA551846, AA609670, AA626903, AA652437, AA699777, AA705493, AA706227, AA724583, AA890298, AA903396, AA903516, AA932834, AA936340, AA962204, AA974405, AA984898, AI025562, AI041021, AI085407, AI085501, AI199020, AI202002, AI221887, AI240488, AI241751, AI341784, AI343628, AI343818, AI354416, AI354430, AI468294, AI469042, AI522045, AI611037, AI631516, AI651319, AI654353, AI671861, AI695193, AI695990, AI739253, AI752196, AI760749, AI766130, AI797406, AI806779, AI810243, AI869482, AI874108, AI914969, AI917787, AI925637, AI962355, AL520139, AL529776, AL529797, AW014976, AW015738, AW050727, AW083636, AW152490, AW188761, AW188846, AW237060, AW247293, AW271703, AW419324, AW514690, AW576068, AW591986, AW628963, AW631149, AW662496, AW662880, AW674559, AW732117, AW771389, AW844109, BE048328, BE048750, BE551786, BE676709, BE940272, BF056453, BF089322, BF092986, BF092999, BF093020, BF093033, BF093094, BF093116, BF093212, BF093213, BF093237, BF223141, BF438045, BF570299, BF588556, BF591404, BF593373, BF821544, BF821642, BF833917, BF879553, BI006725, BI018683, BM556029, BM916911, BM984926, BM993131, BM997620, BP431062, BQ018606, BQ053302, BQ187867, BQ308924, BQ573972, BQ575159, BU615711, BU728926, BU731818, BX329594, BX332613, BX351011, BX356621, BX362870, BX373852, BX374178, BX415352, CA306013, CA308548, CA431296, CA444261, CA445141, CB306355, CD368070, CD618185, CD618188, CD618189, CD618191, CD618194, CO246415, DB302150, DB367681, H45288, H51300, H97524, N72234, R11161, T30888, T51241, T51249, U80964, W45480, W45486, W46818, W51954, W60803, W95170 | ||||||||
Position: |
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RGD ID: | 6788926 | ||||||||
Promoter ID: | HG_KWN:13369 | ||||||||
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_004214, NM_198897, UC009YQU.1 | ||||||||
Position: |
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RGD ID: | 6853368 | ||||||||
Promoter ID: | EP74509 | ||||||||
Type: | initiation region | ||||||||
Name: | HS_FIBP | ||||||||
Description: | Fibroblast growth factor (acidic) intracellular binding protein. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Mammalian gene collection (MGC) full-length cDNA cloning | ||||||||
Position: |
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RGD ID: | 7221079 | ||||||||
Promoter ID: | EPDNEW_H16286 | ||||||||
Type: | initiation region | ||||||||
Name: | FIBP_1 | ||||||||
Description: | FGF1 intracellular binding protein | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:3705 | AgrOrtholog |
COSMIC | FIBP | COSMIC |
Ensembl Genes | ENSG00000172500 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000338369 | ENTREZGENE |
ENST00000338369.6 | UniProtKB/Swiss-Prot | |
ENST00000357519 | ENTREZGENE | |
ENST00000357519.9 | UniProtKB/Swiss-Prot | |
ENST00000531115.5 | UniProtKB/TrEMBL | |
ENST00000532229.1 | UniProtKB/TrEMBL | |
ENST00000533037.5 | UniProtKB/TrEMBL | |
ENST00000533045.5 | UniProtKB/TrEMBL | |
GTEx | ENSG00000172500 | GTEx |
HGNC ID | HGNC:3705 | ENTREZGENE |
Human Proteome Map | FIBP | Human Proteome Map |
InterPro | FIBP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:9158 | UniProtKB/Swiss-Prot |
NCBI Gene | 9158 | ENTREZGENE |
OMIM | 608296 | OMIM |
PANTHER | ACIDIC FIBROBLAST GROWTH FACTOR INTRACELLULAR-BINDING PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR13223 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | FIBP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA28145 | PharmGKB |
UniProt | A8K0J7 | ENTREZGENE |
E9PJW6_HUMAN | UniProtKB/TrEMBL | |
E9PSD3_HUMAN | UniProtKB/TrEMBL | |
FIBP_HUMAN | UniProtKB/Swiss-Prot | |
H0YCE7_HUMAN | UniProtKB/TrEMBL | |
O43427 | ENTREZGENE | |
Q27Q85 | ENTREZGENE | |
Q53F51 | ENTREZGENE, UniProtKB/TrEMBL | |
Q6IBQ3 | ENTREZGENE | |
Q9HD65 | ENTREZGENE | |
UniProt Secondary | A8K0J7 | UniProtKB/Swiss-Prot |
Q27Q85 | UniProtKB/Swiss-Prot | |
Q6IBQ3 | UniProtKB/Swiss-Prot | |
Q9HD65 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-05-03 | FIBP | FGF1 intracellular binding protein | FIBP | fibroblast growth factor (acidic) intracellular binding protein | Symbol and/or name change | 5135510 | APPROVED |