Details for: CFAP65
Gene ID: 255101
Gene Type: Protein-coding - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.
Symbol: CFAP65
Ensembl ID: ENSG00000181378
Description: cilia and flagella associated protein 65
Selected Context(s): Overall
Cell Significance Landscape
Associated with
Significant Cells
Cell Significance Index (CSI) scores for the chosen context(s)
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CSI 5rCSI 8.81%PRS 92.06
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CSI 4.63rCSI 10.99%PRS 91.7
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CSI 4.44rCSI 7.2%PRS 90
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CSI 3.56rCSI 3.73%PRS 95.78
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CSI 3.29rCSI 3.24%PRS 95.75
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CSI 3.14rCSI 2.78%PRS 93.38
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CSI 3.13rCSI 6.35%PRS 81.64
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CSI 2.92rCSI 2.91%PRS 90.89
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CSI 2.88rCSI 2.53%PRS 88.73
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CSI 2.8rCSI 3.83%PRS 93.18
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CSI 2.76rCSI 3.19%PRS 91.2
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CSI 2.33rCSI 3.71%PRS 97.37
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CSI 1.55rCSI 3.52%PRS 89.33
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CSI 1.12rCSI 3.8%PRS 90.11
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CSI 0.75rCSI 3.53%PRS 95.19
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration
Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.
Legend:
- Query Gene
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Node Color (Target Cell CSI, relative to current network):
- Very High
- High
- Medium
- Low
- Very Low
- CSI N/A
- Node Size: Proportional to Target Cell CSI magnitude
- STRING PPI Edge
- Shared Pathway Edge (ONTOLOGY)
Other Information
This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.
Genular Protein ID: 3750796139
Symbol: CFA65_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 33472045
Title: Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.
PubMed ID: 33472045
PubMed ID: 28552195
Title: Biallelic mutations in CFAP43 and CFAP44 cause male infertility with multiple morphological abnormalities of the sperm flagella.
PubMed ID: 28552195
PubMed ID: 31571197
Title: A novel homozygous CFAP65 mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella.
PubMed ID: 31571197
DOI: 10.1111/cge.13644
PubMed ID: 31413122
Title: Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations.
PubMed ID: 31413122
PubMed ID: 31501240
Title: Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice.
PubMed ID: 31501240
PubMed ID: 28585349
Title: CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.
PubMed ID: 28585349
DOI: 10.1002/humu.23270
Sequence Information:
- Length: 1925
- Mass: 217250
- Checksum: 000CFE2B83394B42
- Sequence:
MFTLTGCRLV EKTQKVENPS VSFASSFPLI PLLLRGKSVQ KKQAESKSQI KLHTQSAPFG LCPKDMMLTQ APSSVVRSRN SRNHTVNSGG SCLSASTVAI PAINDSSAAM SACSTISAQP ASSMDTQMHS PKKQERVNKR VIWGIEVAEE LHWKGWELGK ETTRNLVLKN RSLKLQKMKY RPPKTKFFFT VIPQPIFLSP GITLTLPIVF RPLEAKEYMD QLWFEKAEGM FCVGLRATLP CHRLICRPPS LQLPMCAVGD TTEAFFCLDN VGDLPTFFTW EFSSPFQMLP ATGLLEPGQA SQIKVTFQPL TAVIYEVQAT CWYGAGSRQR SSIQLQAVAK CAQLLVSIKH KCPEDQDAEG FQKLLYFGSV AVGCTSERQI RLHNPSAVNA PFRIEISPDE LAEDQAFSCP TAHGIVLPGE KKCVSVFFHP KTLDTRTVDY CSIMPSGCAS KTLLKVVGFC RGPAVSLQHY CVNFSWVNLG ERSEQPLWIE NQSDCTAHFQ FAIDCLESVF TIRPAFGTLV GKARMTLHCA FQPTHPIICF RRVACLIHHQ DPLFLDLMGT CHSDSTKPAI LKPQHLTWYR THLARGLTLY PPDILDAMLK EKKLAQDQNG ALMIPIQDLE DMPAPQYPYI PPMTEFFFDG TSDITIFPPP ISVEPVEVDF GACPGPEAPN PVPLCLMNHT KGKIMVVWTR RSDCPFWVTP ESCDVPPLKS MAMRLHFQPP HPNCLYTVEL EAFAIYKVLQ SYSNIEEDCT MCPSWCLTVR ARGHSYFAGF EHHIPQYSLD VPKLFPAVSS GEPTYRSLLL VNKDCKLLTF SLAPQRGSDV ILRPTSGLVA PGAHQIILIC TYPEGSSWKQ HTFYLQCNAS PQYLKEVSMY SREEPLQLKL DTHKSLYFKP TWVGCSSTSP FTFRNPSRLP LQFEWRVSEQ HRKLLAVQPS RGLIQPNERL TLTWTFSPLE ETKYLFQVGM WVWEAGLSPN ANPAATTHYM LRLVGVGLTS SLSAKEKELA FGNVLVNSKQ SRFLVLLNDG NCTLYYRLYL EQGSPEAVDN HPLALQLDRT EGSMPPRSQD TICLTACPKQ RSQYSWTITY SLLSHRDNKA GEKQELCCVS LVAVYPLLSI LDVSSMGSAE GITRKHLWRL FSLDLLNSYL ERDPTPCELT YKVPTRHSMS QIPPVLTPLR LDFNFGAAPF KAPPSVVFLA LKNSGVVSLD WAFLLPSDQR IDVELWAEQA ELNSTELHQM RVQDNCLFSI SPKAGSLSPG QEQMVELKYS HLFIGTDHLP VLFKVSHGRE ILLNFIGVTV KPEQKYVHFT STTHQFIPIP IGDTLPPRQI YELYNGGSVP VTYEVQTDVL SQVQEKNFDH PIFCCLNPKG EIQPGSTARV LWIFSPIEAK TYTVDVPIHI LGWNSALIHF QGVGYNPHMM GDTAPFHNIS SWDNSSIHSR LVVPGQNVFL SQSHISLGNI PVQSKCSRLL FLNNISKNEE IAFSWQPSPL DFGEVSVSPM IGVVAPEETV PFVVTLRASV HASFYSADLV CKLYSQQLMR QYHKELQEWK DEKVRQEVEF TITDMKVKKR TCCTACEPAR KYKTLPPIKN QQSVSRPASW KLQTPKEEVS WPCPQPPSPG MLCLGLTARA HATDYFLANF FSEFPCHFLH RELPKRKAPR EESETSEEKS PNKWGPVSKQ KKQLLVDILT TIIRGLLEDK NFHEAVDQSL VEQVPYFRQF WNEQSTKFMD QKNSLYLMPI LPVPSSSWED GKGKQPKEDR PEHYPGLGKK EEGEEEKGEE EEEELEEEEE EEEETEEEEL GKEEIEEKEE ERDEKEEKVS WAGIGPTPQP ESQESMQWQW QQQLNVMVKE EQEQDEKEAI RRLPAFANLQ EALLENMIQN ILVEASRGEV VLTSRPRVIA LPPFCVPRSL TPDTLLPTQQ AEVLHPVVPL PTDLP
Genular Protein ID: 2899999798
Symbol: Q49A14_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11237011
Title: Initial sequencing and analysis of the human genome.
PubMed ID: 11237011
DOI: 10.1038/35057062
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 15496913
Title: Finishing the euchromatic sequence of the human genome.
PubMed ID: 15496913
DOI: 10.1038/nature03001
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
Sequence Information:
- Length: 271
- Mass: 30509
- Checksum: 7C9CA1CB5A83963E
- Sequence:
MTLHCAFQPT HPIICFRRVA CLIHHQDPLF LDLMGTCHSD STKPAILKPQ HLTWYRTHLA RGLTLYPPDI LDAMLKEKKL AQDQNGALMI PIQDLEDMPA PQYPYIPPMT EFFFDGTSDI TIFPPPISVE PVEVDFGACP GPEAPNPVPL CLMNHTKGKI MVVWTRRSDC PFWVTPESCD VPPLKSMAMR LHFQPPHPNC LYTVELEAFA IYKVCARNER EECGVSARSL SGLVGWQEVT EGSFRLHPLR ARLSLGWTVT PMSLSPPKLL A
Genular Protein ID: 3727686392
Symbol: B4DYZ8_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 729
- Mass: 81247
- Checksum: B90873890D8E44A6
- Sequence:
MLTQAPSSVV RSRNSRNHTV NSGGSCLSAS TVAIPAINDS SAAMSACSTI SAQPASSMDT QMHSPKKQER VNKRVIWGIE VAEELHWKGW ELGKETTRNL VLKNRSLKLQ KMKYRPPKTK FFFTVIPQPI FLSPGITLTL PIVFRPLEAK EYMDQLWFEK AEGMFCVGLR ATLPCHRLIC RPPSLQLPMC AVGDTTEAFF CLDNVGDLPT FFTWEFSSPF QMLPATGLLE PGQASQIKVT FQPLTAVIYE VQATCWYGAG SRQRSSIQLQ AVAKCAQLLV SIKHKCPEDQ DAEGFQKLLY FGSVAVGCTS ERQIRLHNPS AVNAPFRIEI SPDELAEDQA FSCPTAHGIV LPGEKKCVSV FFHPKTLDTR TVDYCSIMPS GCASKTLLKV VGFCRGPAVS LQHYCVNFSW VNLGERSEQP LWIENQSDCT AHFQFAIDCL ESVFTIRPAF GTLVGKARMT LHCAFQPTHP IICFRRVACL IHHQDPLFLD LMGTCHSDST KPAILKPQHL TWYRTHLARG LTLYPPDILD AMLKEKKLAQ DQNGALMIPI QDLEDMPAPQ YPYIPPMTEF FFDGTSDITI FPPPISVEPV EVDFGACPGP EAPNPVPLCL MNHTKGKIMV VWTRRSDCPF WVTPESCDVP PLKSMAMRLH FQPPHPNCLY TVELEAFAIY KVCARNEREE CGVSARSLSG LVGWQEVTEG SFRLHPLRAR LSLGWTVTPM SLSPPKLLA
Genular Protein ID: 1475272337
Symbol: B4DZ05_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 784
- Mass: 87583
- Checksum: F6E0DDCE2FCB9447
- Sequence:
METAIWRRSY ISLISSERPV HNWRGKSVQK KQAESKSQIK LHTQSAPFGL CPKDLMLTQA PSSVVRSRNS RNHTVNSGGS CLSASTVAIP AINDSSAAMS ACSTISAQPA SSMDTQMHSP KKQERVNKRV IWGIEVAEEL HWKGWELGKE TTRNLVLKNR SLKLQKMKYR PPKTKFFFTV IPQPIFLSPG ITLTLPIVFR PLEAKEYMDQ LWFEKAEGMF CVGLRATLPC HRLICRPPSL QLPMCAVGDT TEAFFCLDNV GDLPTFFTWE FSSPFQMLPA TGLLEPGQAS QIKVTFQPLT AVIYEVQATC WYGAGSRQRS SIQLQAVAKC AQLLVSIKHK CPEDQDAEGF QKLLYFGSVA VGCTSERQIR LHNPSAVNAP FRIEISPDEL AEDQAFSCPT AHGIVLPGEK KCVSVFFHPK TLDTRTVDYC SIMPSGCASK TLLKVVGFCR GPAVSLQHYC VNFSWVNLGE RSEQPLWIEN QSDCTAHFQF AIDCLESVFT IRPAFGTLVG KARMTLHCAF QPTHPIICFR RVACLIHHQD PLFLDLMGTC HSDSTKPAIL KPQHLTWYRT HLARGLTLYP PDILDAMLKE KKLAQDQNGA LMIPIQDLED MPAPQYPYIP PMTEFFFDGT SDITIFPPPI SVEPVEVDFG ACPGPEAPNP VPLCLMNHTK GKIMVVWTRR SDCPFWVTPE SCDVPPLKSM AMRLHFQPPH PNCLYTVELE AFAIYKVCAR NEREECGVSA RSLSGLVGWQ EVTEGSFRLH PLRARLSLGW TVTPMSLSPP KLLA