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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | IKZF5 | Human | Thrombocytopenia 7 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | IKZF5 | Human | Thrombocytopenia 7 | | 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:10978333 | PMID:12477932 | PMID:12511597 | PMID:14702039 | PMID:15491138 | PMID:16189514 | PMID:16344560 | PMID:18029348 | PMID:21873635 | PMID:25416956 | PMID:25665578 | PMID:26496610 |
PMID:27107012 | PMID:28514442 | PMID:29844126 | PMID:30217970 | PMID:31217188 | PMID:32296183 | PMID:32419556 | PMID:33961781 | PMID:34189442 | PMID:35140242 | PMID:35271311 |
IKZF5 (Homo sapiens - human) |
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Ikzf5 (Mus musculus - house mouse) |
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Ikzf5 (Rattus norvegicus - Norway rat) |
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Ikzf5 (Chinchilla lanigera - long-tailed chinchilla) |
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IKZF5 (Pan paniscus - bonobo/pygmy chimpanzee) |
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IKZF5 (Canis lupus familiaris - dog) |
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Ikzf5 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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IKZF5 (Sus scrofa - pig) |
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IKZF5 (Chlorocebus sabaeus - green monkey) |
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Ikzf5 (Heterocephalus glaber - naked mole-rat) |
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Variants in IKZF5
17 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 | copy number gain | not provided [RCV000847820] | Chr10:114544537..135427143 [GRCh37] Chr10:10q25.2-26.3 |
pathogenic |
GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3 | copy number gain | See cases [RCV000050701] | Chr10:119273012..123117390 [GRCh38] Chr10:121032524..124876906 [GRCh37] Chr10:121022514..124866896 [NCBI36] Chr10:10q26.11-26.13 |
pathogenic |
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 | copy number gain | See cases [RCV000051218] | Chr10:111313099..133620674 [GRCh38] Chr10:113072857..135434178 [GRCh37] Chr10:113062847..135284168 [NCBI36] Chr10:10q25.2-26.3 |
pathogenic |
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 | copy number loss | See cases [RCV000051103] | Chr10:120454430..133620674 [GRCh38] Chr10:122213942..135434178 [GRCh37] Chr10:122203932..135284168 [NCBI36] Chr10:10q26.12-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1 | copy number loss | See cases [RCV000051069] | Chr10:122265252..133620674 [GRCh38] Chr10:124024767..135434178 [GRCh37] Chr10:124014757..135284168 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1 | copy number loss | See cases [RCV000052609] | Chr10:122826743..126730948 [GRCh38] Chr10:124586259..128419517 [GRCh37] Chr10:124576249..128409507 [NCBI36] Chr10:10q26.13-26.2 |
pathogenic |
GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1 | copy number loss | See cases [RCV000052610] | Chr10:122973296..128210291 [GRCh38] Chr10:124732812..130008555 [GRCh37] Chr10:124722802..129898545 [NCBI36] Chr10:10q26.13-26.2 |
pathogenic |
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] | Chr10:91048545..133620674 [GRCh38] Chr10:92808302..135434178 [GRCh37] Chr10:92798282..135284168 [NCBI36] Chr10:10q23.31-26.3 |
pathogenic |
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 | copy number gain | See cases [RCV000053564] | Chr10:100194215..132432797 [GRCh38] Chr10:101953972..134246301 [GRCh37] Chr10:101943962..134096291 [NCBI36] Chr10:10q24.31-26.3 |
pathogenic |
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 | copy number gain | See cases [RCV000053588] | Chr10:106925303..133620815 [GRCh38] Chr10:108685061..135434319 [GRCh37] Chr10:108675051..135284309 [NCBI36] Chr10:10q25.1-26.3 |
pathogenic |
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 | copy number gain | See cases [RCV000053589] | Chr10:117866565..133554210 [GRCh38] Chr10:119626076..135367714 [GRCh37] Chr10:119616066..135217704 [NCBI36] Chr10:10q26.11-26.3 |
pathogenic |
NM_001271840.1(IKZF5):c.317-119T>C | single nucleotide variant | Lung cancer [RCV000108765] | Chr10:122994842 [GRCh38] Chr10:124754358 [GRCh37] Chr10:10q26.13 |
uncertain significance |
H155Y | variation | Thrombocytopenia 7 [RCV001271090] | Chr10:10q26.13 | pathogenic |
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 | copy number gain | See cases [RCV000133688] | Chr10:108102587..133620674 [GRCh38] Chr10:109862345..135434178 [GRCh37] Chr10:109852335..135284168 [NCBI36] Chr10:10q25.1-26.3 |
pathogenic |
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 | copy number gain | See cases [RCV000137747] | Chr10:100600492..133622588 [GRCh38] Chr10:102360249..135436092 [GRCh37] Chr10:102350239..135286082 [NCBI36] Chr10:10q24.31-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1 | copy number loss | See cases [RCV000138435] | Chr10:122881207..133620609 [GRCh38] Chr10:124640723..135434113 [GRCh37] Chr10:124630713..135284103 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1 | copy number loss | See cases [RCV000139344] | Chr10:120970558..133622588 [GRCh38] Chr10:122730071..135436092 [GRCh37] Chr10:122720061..135286082 [NCBI36] Chr10:10q26.12-26.3 |
pathogenic |
GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1 | copy number loss | See cases [RCV000139771] | Chr10:122143176..124358013 [GRCh38] Chr10:123902691..126046582 [GRCh37] Chr10:123892681..126036572 [NCBI36] Chr10:10q26.13 |
pathogenic |
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 | copy number gain | See cases [RCV000142005] | Chr10:119707856..133613639 [GRCh38] Chr10:121467368..135427143 [GRCh37] Chr10:121457358..135277133 [NCBI36] Chr10:10q26.11-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1 | copy number loss | See cases [RCV000142441] | Chr10:121588992..133620674 [GRCh38] Chr10:123348506..135434178 [GRCh37] Chr10:123338496..135284168 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1 | copy number loss | See cases [RCV000142737] | Chr10:121918547..133620674 [GRCh38] Chr10:123678062..135434178 [GRCh37] Chr10:123668052..135284168 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1 | copy number loss | See cases [RCV000240153] | Chr10:122239239..128203032 [GRCh37] Chr10:10q26.12-26.2 |
pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1 | copy number loss | See cases [RCV000203440] | Chr10:123731209..135353867 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic|likely pathogenic |
GRCh37/hg19 10q26.13(chr10:124593422-125010666)x3 | copy number gain | See cases [RCV000240344] | Chr10:124593422..125010666 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 | copy number gain | See cases [RCV000240457] | Chr10:103288313..135512075 [GRCh37] Chr10:10q24.32-26.3 |
pathogenic |
C140R | variation | Thrombocytopenia 7 [RCV001271091] | Chr10:10q26.13 | pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)x3 | copy number gain | See cases [RCV000449169] | Chr10:122125760..135062972 [GRCh37] Chr10:10q26.12-26.3 |
likely pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1 | copy number loss | See cases [RCV000449336] | Chr10:124147428..135370736 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic |
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 | copy number gain | See cases [RCV000449386] | Chr10:104633712..135427143 [GRCh37] Chr10:10q24.32-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1 | copy number loss | See cases [RCV000446095] | Chr10:122343861..135427143 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 | copy number gain | See cases [RCV000446733] | Chr10:100780957..135427143 [GRCh37] Chr10:10q24.2-26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 | copy number gain | See cases [RCV000448750] | Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) | copy number gain | See cases [RCV000511389] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 | copy number gain | See cases [RCV000510813] | Chr10:106003533..135427143 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 | copy number gain | See cases [RCV000510861] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 | copy number gain | See cases [RCV000510972] | Chr10:93283493..135427143 [GRCh37] Chr10:10q23.32-26.3 |
pathogenic |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] | Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3 | copy number gain | not provided [RCV000683288] | Chr10:121269222..135427143 [GRCh37] Chr10:10q26.11-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1 | copy number loss | not provided [RCV000683287] | Chr10:122509781..135427143 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1 | copy number loss | not provided [RCV000683286] | Chr10:123019239..135427143 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 | copy number gain | not provided [RCV000683290] | Chr10:105613040..135427143 [GRCh37] Chr10:10q24.33-26.3 |
pathogenic |
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 | copy number gain | not provided [RCV000683291] | Chr10:94346520..135427143 [GRCh37] Chr10:10q23.33-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1 | copy number loss | not provided [RCV000737305] | Chr10:122443197..135477883 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 | copy number gain | not provided [RCV000749464] | Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 | copy number gain | not provided [RCV000749465] | Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) | copy number gain | not provided [RCV000767665] | Chr10:110022170..135439095 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806) | copy number loss | Distal 10q deletion syndrome [RCV000767564] | Chr10:117024753..124942806 [GRCh37] Chr10:10q25.3-26.13 |
pathogenic |
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3 | copy number gain | not provided [RCV001006356] | Chr10:119996339..135427143 [GRCh37] Chr10:10q26.11-26.3 |
pathogenic |
NM_001372123.1(IKZF5):c.1072C>A (p.Gln358Lys) | single nucleotide variant | Thrombocytopenia 7 [RCV003313889] | Chr10:122993968 [GRCh38] Chr10:124753484 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q26.13(chr10:124252660-125447562)x1 | copy number loss | not provided [RCV002472737] | Chr10:124252660..125447562 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001372123.1(IKZF5):c.362A>T (p.Tyr121Phe) | single nucleotide variant | Thrombocytopenia 7 [RCV002281022] | Chr10:122994678 [GRCh38] Chr10:124754194 [GRCh37] Chr10:10q26.13 |
likely pathogenic|uncertain significance |
GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3 | copy number gain | not provided [RCV001537903] | Chr10:118247181..135435319 [GRCh37] Chr10:10q25.3-26.3 |
pathogenic |
Single allele | deletion | not provided [RCV001391678] | Chr10:119302758..124813305 [GRCh37] Chr10:10q26.11-26.13 |
likely pathogenic |
NM_001372123.1(IKZF5):c.355T>C (p.Ser119Pro) | single nucleotide variant | Thrombocytopenia 7 [RCV001271094] | Chr10:122994685 [GRCh38] Chr10:124754201 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic |
G134E | variation | Thrombocytopenia 7 [RCV001271092] | Chr10:10q26.13 | pathogenic |
IKZF5, ARG96TRP | variation | Thrombocytopenia 7 [RCV001271093] | Chr10:10q26.13 | pathogenic |
NC_000010.11:g.123008776G>A | single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001514628]|not provided [RCV001615190] | Chr10:123008776 [GRCh38] Chr10:124768292 [GRCh37] Chr10:10q26.13 |
benign |
GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1 | copy number loss | See cases [RCV001526488] | Chr10:122785023..135457222 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972) | copy number gain | not specified [RCV002052894] | Chr10:122125760..135062972 [GRCh37] Chr10:10q26.12-26.3 |
likely pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143) | copy number loss | not specified [RCV002052895] | Chr10:122343861..135427143 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) | copy number gain | not specified [RCV002052891] | Chr10:108455687..135427143 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066) | copy number loss | not specified [RCV002052892] | Chr10:117019650..125217066 [GRCh37] Chr10:10q25.3-26.13 |
pathogenic |
NM_001372123.1(IKZF5):c.463C>T (p.His155Tyr) | single nucleotide variant | Thrombocytopenia 7 [RCV002245461] | Chr10:122994577 [GRCh38] Chr10:124754093 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_001372123.1(IKZF5):c.401G>A (p.Gly134Glu) | single nucleotide variant | Thrombocytopenia 7 [RCV002245463] | Chr10:122994639 [GRCh38] Chr10:124754155 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic |
NM_001372123.1(IKZF5):c.286C>T (p.Arg96Trp) | single nucleotide variant | Thrombocytopenia 7 [RCV002245464] | Chr10:122996024 [GRCh38] Chr10:124755540 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic |
NC_000010.10:g.(?_123239371)_(124813281_?)del | deletion | FGFR2-related craniosynostosis [RCV003119408] | Chr10:123239371..124813281 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001372123.1(IKZF5):c.1150G>A (p.Gly384Arg) | single nucleotide variant | not provided [RCV003156612] | Chr10:122993890 [GRCh38] Chr10:124753406 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001372123.1(IKZF5):c.418T>C (p.Cys140Arg) | single nucleotide variant | Thrombocytopenia 7 [RCV002245462] | Chr10:122994622 [GRCh38] Chr10:124754138 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_001372123.1(IKZF5):c.1112T>C (p.Met371Thr) | single nucleotide variant | not provided [RCV002262293] | Chr10:122993928 [GRCh38] Chr10:124753444 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_001372123.1(IKZF5):c.459G>C (p.Leu153Phe) | single nucleotide variant | Thrombocytopenia 7 [RCV003152842] | Chr10:122994581 [GRCh38] Chr10:124754097 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001372123.1(IKZF5):c.897C>T (p.Ala299=) | single nucleotide variant | not provided [RCV002511647] | Chr10:122994143 [GRCh38] Chr10:124753659 [GRCh37] Chr10:10q26.13 |
likely benign |
GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1 | copy number loss | not provided [RCV003222684] | Chr10:122610933..135439810 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) | copy number gain | Distal trisomy 10q [RCV003319593] | Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3 |
pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143) | copy number loss | Distal 10q deletion syndrome [RCV003319590] | Chr10:123477898..135427143 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic |
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) | copy number loss | Distal 10q deletion syndrome [RCV003319583] | Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 | copy number gain | Distal trisomy 10q [RCV003458955] | Chr10:111378692..135427143 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3 | copy number gain | not provided [RCV003484817] | Chr10:111447991..133435388 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
NM_001372123.1(IKZF5):c.296_300delinsTGTGGATT (p.Glu99_His100delinsValTrpIle) | indel | Thrombocytopenia 7 [RCV003458947] | Chr10:122996010..122996014 [GRCh38] Chr10:124755526..124755530 [GRCh37] Chr10:10q26.13 |
likely pathogenic |
NM_001372123.1(IKZF5):c.254G>A (p.Arg85Gln) | single nucleotide variant | IKZF5-related disorder [RCV003392857] | Chr10:122996056 [GRCh38] Chr10:124755572 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 | copy number gain | not specified [RCV003986893] | Chr10:95078198..135427143 [GRCh37] Chr10:10q23.33-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1 | copy number loss | not provided [RCV004442821] | Chr10:122331280..135426386 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
NC_000010.10:g.(?_122610933)_(124813281_?)dup | duplication | FGFR2-related craniosynostosis [RCV004581690] | Chr10:122610933..124813281 [GRCh37] Chr10:10q26.12-26.13 |
uncertain significance |
NC_000010.10:g.(?_122842033)_(124813281_?)del | deletion | Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV004580450] | Chr10:122842033..124813281 [GRCh37] Chr10:10q26.12-26.13 |
pathogenic |
NM_001372123.1(IKZF5):c.883G>A (p.Ala295Thr) | single nucleotide variant | not specified [RCV004587803] | Chr10:122994157 [GRCh38] Chr10:124753673 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001372123.1(IKZF5):c.1014G>A (p.Thr338=) | single nucleotide variant | not provided [RCV004598863] | Chr10:122994026 [GRCh38] Chr10:124753542 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_001372123.1(IKZF5):c.828T>G (p.Asp276Glu) | single nucleotide variant | not provided [RCV004793300] | Chr10:122994212 [GRCh38] Chr10:124753728 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001372123.1(IKZF5):c.207G>A (p.Met69Ile) | single nucleotide variant | not provided [RCV004793301] | Chr10:122996103 [GRCh38] Chr10:124755619 [GRCh37] Chr10:10q26.13 |
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 |
RH94240 |
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D10S1273E |
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SHGC-34259 |
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ZNFN1A5_8083 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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1204 | 2439 | 2788 | 2253 | 4974 | 1726 | 2351 | 6 | 624 | 1951 | 465 | 2270 | 7306 | 6472 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
RefSeq Transcripts | NG_067239 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001271840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001372123 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001372124 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001372125 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001372126 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001372127 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001372128 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001372129 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001372130 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001372131 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006717947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017016551 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047425645 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047425646 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047425647 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054366584 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054366585 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054366586 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054366587 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC073585 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF230808 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI560579 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK023288 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK026626 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK055507 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK122899 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK226143 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC022564 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX647958 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471066 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR749800 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA218215 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA227834 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB080324 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB224006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000368886 ⟹ ENSP00000357881 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000469821 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000479103 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000496605 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000617859 ⟹ ENSP00000478056 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001271840 ⟹ NP_001258769 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001372123 ⟹ NP_001359052 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001372124 ⟹ NP_001359053 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001372125 ⟹ NP_001359054 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001372126 ⟹ NP_001359055 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001372127 ⟹ NP_001359056 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001372128 ⟹ NP_001359057 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001372129 ⟹ NP_001359058 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001372130 ⟹ NP_001359059 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001372131 ⟹ NP_001359060 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006717947 ⟹ XP_006718010 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047425645 ⟹ XP_047281601 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047425646 ⟹ XP_047281602 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047425647 ⟹ XP_047281603 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054366584 ⟹ XP_054222559 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054366585 ⟹ XP_054222560 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054366586 ⟹ XP_054222561 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054366587 ⟹ XP_054222562 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001258769 | (Get FASTA) | NCBI Sequence Viewer |
NP_001359052 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001359053 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001359054 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001359055 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001359056 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001359057 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001359058 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001359059 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001359060 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006718010 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047281601 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047281602 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047281603 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054222559 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054222560 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054222561 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054222562 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAG39220 | (Get FASTA) | NCBI Sequence Viewer |
BAB15512 | (Get FASTA) | NCBI Sequence Viewer | |
BAG53789 | (Get FASTA) | NCBI Sequence Viewer | |
CAH18660 | (Get FASTA) | NCBI Sequence Viewer | |
CAH56199 | (Get FASTA) | NCBI Sequence Viewer | |
EAW49292 | (Get FASTA) | NCBI Sequence Viewer | |
EAW49293 | (Get FASTA) | NCBI Sequence Viewer | |
EAW49294 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000357881 | ||
ENSP00000357881.5 | |||
ENSP00000478056 | |||
ENSP00000478056.1 | |||
GenBank Protein | Q9H5V7 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001258769 ⟸ NM_001271840 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9H5V7 (UniProtKB/Swiss-Prot), D3DRE7 (UniProtKB/Swiss-Prot), B3KVH7 (UniProtKB/Swiss-Prot), Q9H2T0 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006718010 ⟸ XM_006717947 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9H5V7 (UniProtKB/Swiss-Prot), D3DRE7 (UniProtKB/Swiss-Prot), B3KVH7 (UniProtKB/Swiss-Prot), Q9H2T0 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001359055 ⟸ NM_001372126 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9H5V7 (UniProtKB/Swiss-Prot), D3DRE7 (UniProtKB/Swiss-Prot), B3KVH7 (UniProtKB/Swiss-Prot), Q9H2T0 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001359057 ⟸ NM_001372128 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9H5V7 (UniProtKB/Swiss-Prot), D3DRE7 (UniProtKB/Swiss-Prot), B3KVH7 (UniProtKB/Swiss-Prot), Q9H2T0 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001359054 ⟸ NM_001372125 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9H5V7 (UniProtKB/Swiss-Prot), D3DRE7 (UniProtKB/Swiss-Prot), B3KVH7 (UniProtKB/Swiss-Prot), Q9H2T0 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001359060 ⟸ NM_001372131 |
- Peptide Label: | isoform 2 |
RefSeq Acc Id: | NP_001359053 ⟸ NM_001372124 |
- Peptide Label: | isoform 2 |
RefSeq Acc Id: | NP_001359052 ⟸ NM_001372123 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9H5V7 (UniProtKB/Swiss-Prot), D3DRE7 (UniProtKB/Swiss-Prot), B3KVH7 (UniProtKB/Swiss-Prot), Q9H2T0 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001359058 ⟸ NM_001372129 |
- Peptide Label: | isoform 2 |
RefSeq Acc Id: | NP_001359056 ⟸ NM_001372127 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9H5V7 (UniProtKB/Swiss-Prot), D3DRE7 (UniProtKB/Swiss-Prot), B3KVH7 (UniProtKB/Swiss-Prot), Q9H2T0 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001359059 ⟸ NM_001372130 |
- Peptide Label: | isoform 2 |
Ensembl Acc Id: | ENSP00000478056 ⟸ ENST00000617859 |
Ensembl Acc Id: | ENSP00000357881 ⟸ ENST00000368886 |
RefSeq Acc Id: | XP_047281602 ⟸ XM_047425646 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9H5V7 (UniProtKB/Swiss-Prot), D3DRE7 (UniProtKB/Swiss-Prot), B3KVH7 (UniProtKB/Swiss-Prot), Q9H2T0 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047281603 ⟸ XM_047425647 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9H5V7 (UniProtKB/Swiss-Prot), D3DRE7 (UniProtKB/Swiss-Prot), B3KVH7 (UniProtKB/Swiss-Prot), Q9H2T0 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047281601 ⟸ XM_047425645 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9H5V7 (UniProtKB/Swiss-Prot), D3DRE7 (UniProtKB/Swiss-Prot), B3KVH7 (UniProtKB/Swiss-Prot), Q9H2T0 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054222560 ⟸ XM_054366585 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9H5V7 (UniProtKB/Swiss-Prot), D3DRE7 (UniProtKB/Swiss-Prot), B3KVH7 (UniProtKB/Swiss-Prot), Q9H2T0 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054222561 ⟸ XM_054366586 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9H5V7 (UniProtKB/Swiss-Prot), D3DRE7 (UniProtKB/Swiss-Prot), B3KVH7 (UniProtKB/Swiss-Prot), Q9H2T0 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054222562 ⟸ XM_054366587 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9H5V7 (UniProtKB/Swiss-Prot), D3DRE7 (UniProtKB/Swiss-Prot), B3KVH7 (UniProtKB/Swiss-Prot), Q9H2T0 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054222559 ⟸ XM_054366584 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9H5V7 (UniProtKB/Swiss-Prot), D3DRE7 (UniProtKB/Swiss-Prot), B3KVH7 (UniProtKB/Swiss-Prot), Q9H2T0 (UniProtKB/Swiss-Prot) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9H5V7-F1-model_v2 | AlphaFold | Q9H5V7 | 1-419 | view protein structure |
RGD ID: | 7218889 | ||||||||
Promoter ID: | EPDNEW_H15191 | ||||||||
Type: | initiation region | ||||||||
Name: | IKZF5_1 | ||||||||
Description: | IKAROS family zinc finger 5 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6787783 | ||||||||
Promoter ID: | HG_KWN:11510 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Jurkat | ||||||||
Transcripts: | UC001LGZ.2 | ||||||||
Position: |
|
RGD ID: | 6787304 | ||||||||
Promoter ID: | HG_KWN:11511 | ||||||||
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: | ENST00000263447, OTTHUMT00000050820, OTTHUMT00000050821, OTTHUMT00000050822, OTTHUMT00000050823, OTTHUMT00000050843 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:14283 | AgrOrtholog |
COSMIC | IKZF5 | COSMIC |
Ensembl Genes | ENSG00000095574 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000368886 | ENTREZGENE |
ENST00000368886.10 | UniProtKB/Swiss-Prot | |
ENST00000617859 | ENTREZGENE | |
ENST00000617859.4 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | Classic Zinc Finger | UniProtKB/Swiss-Prot |
GTEx | ENSG00000095574 | GTEx |
HGNC ID | HGNC:14283 | ENTREZGENE |
Human Proteome Map | IKZF5 | Human Proteome Map |
InterPro | Ikaros_C2H2-ZF | UniProtKB/Swiss-Prot |
Znf_C2H2_sf | UniProtKB/Swiss-Prot | |
Znf_C2H2_type | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:64376 | UniProtKB/Swiss-Prot |
NCBI Gene | 64376 | ENTREZGENE |
OMIM | 606238 | OMIM |
PANTHER | ZINC FINGER PROTEIN | UniProtKB/Swiss-Prot |
ZINC FINGER PROTEIN PEGASUS | UniProtKB/Swiss-Prot | |
PharmGKB | PA162391969 | PharmGKB |
PROSITE | ZINC_FINGER_C2H2_1 | UniProtKB/Swiss-Prot |
ZINC_FINGER_C2H2_2 | UniProtKB/Swiss-Prot | |
SMART | ZnF_C2H2 | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF57667 | UniProtKB/Swiss-Prot |
UniProt | B3KVH7 | ENTREZGENE |
D3DRE7 | ENTREZGENE | |
IKZF5_HUMAN | UniProtKB/Swiss-Prot | |
Q9H2T0 | ENTREZGENE | |
Q9H5V7 | ENTREZGENE | |
UniProt Secondary | B3KVH7 | UniProtKB/Swiss-Prot |
D3DRE7 | UniProtKB/Swiss-Prot | |
Q9H2T0 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-12-08 | IKZF5 | IKAROS family zinc finger 5 | IKZF5 | IKAROS family zinc finger 5 (Pegasus) | Symbol and/or name change | 5135510 | APPROVED |